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NM_005996.4(TBX3):c.-937A>G

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Feb 20, 2020)
Last evaluated:
Jan 13, 2018
Accession:
VCV000881960.2
Variation ID:
881960
Description:
single nucleotide variant
#
SCV Submitter Clinical significance Review status Collection method Number of
individuals
Number of
families
Interpreted condition
(Affected status)
Allele origin Clinical features
(Affected status)
Comments on
clinical features
Indication for testing Zygosity Citations Links Comments on
clinical significance
Comments on
evidence
Family history Segregation
observed
Age Sex Ethnicity/Population
group
Geographic origin Tissue Secondary finding Study name Method Result Testing laboratory Testing laboratory
interpretation
Date interpretation
reported to submitter
1 SCV001268850.1 Illumina Laboratory Services,Illumina Uncertain significance criteria provided,
single submitter
clinical testing Ulnar-mammary syndrome (unknown ) germline This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.