NCBI
dbSNP

dbVar ClinVar GaP PubMed Nucleotide Protein
Search small variations in dbSNP or large structural variations in dbVar
transparent GIF
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Method Detail
Submitter Method Handle: EGL
Submitter Method ID: CLINICAL_SNP_SUBMISSION
Submitted method description:
Submitters from clinical diagnostic labs use tranSNP.cgi to enter HGVS names
for variations. Software behind tranSNP.cgi will use HGVS names to map to
NCBI reference contigs and get flanking sequences for the variations and
submit all information to dbSNP. Submitter may provided submitter web link,
pubmed id, OMIM id and/or MeSH term which will be reported on snp_ss.cgi on
dbSNP website and on Variation viewer. Please see those links for more details.

This method was used in the following submission:

Submitter Handle Batch Type Submitter batch id Release build id
EGL Assay EGL_2013-12-09 138
EGL Assay EGL_2014-01-21 138
EGL Assay EGL_2014-03-24 141