ClinVar Miner

Submissions for variant NM_001360.3(DHCR7):c.1092G>A (p.Thr364=)

gnomAD frequency: 0.00608  dbSNP: rs35946774
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153140 SCV000202601 benign not specified 2014-02-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000153140 SCV000307637 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000332036 SCV000373909 uncertain significance Smith-Lemli-Opitz syndrome 2018-01-13 criteria provided, single submitter clinical testing 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.
Ambry Genetics RCV002312674 SCV000847258 likely benign Inborn genetic diseases 2016-07-01 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV000332036 SCV001018519 benign Smith-Lemli-Opitz syndrome 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001706018 SCV001873048 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000153140 SCV002065096 benign not specified 2021-07-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV000332036 SCV002093010 benign Smith-Lemli-Opitz syndrome 2017-05-05 no assertion criteria provided clinical testing

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