Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

NM_000018.4(ACADVL):c.787G>A (p.Ala263Thr)

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Sep 19, 2018)
Last evaluated:
Jun 28, 2013
Accession:
VCV000092291.1
Variation ID:
92291
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 SCV000109753.8 EGL Genetic Diagnostics, Eurofins Clinical Diagnostics Uncertain significance criteria provided,
single submitter
clinical testing 1 not provided (unknown ) germline 1 Single Heterozygote http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=ACADVL mixed