ClinVar Miner

Submissions for variant NM_001360.3(DHCR7):c.126C>T (p.Ser42=)

gnomAD frequency: 0.00031  dbSNP: rs150928869
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) RCV000152714 SCV000202100 benign not specified 2016-03-01 criteria provided, single submitter clinical testing
Invitae RCV000633529 SCV000754774 benign Smith-Lemli-Opitz syndrome 2021-12-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718684 SCV000849548 benign History of neurodevelopmental disorder 2017-05-01 criteria provided, single submitter clinical testing General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Illumina Laboratory Services,Illumina RCV000633529 SCV001272045 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.
Genome-Nilou Lab RCV000633529 SCV001653339 likely benign Smith-Lemli-Opitz syndrome 2021-05-18 criteria provided, single submitter clinical testing
GeneDx RCV001657862 SCV001874607 benign not provided 2018-09-07 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 15521979)
Genetic Services Laboratory,University of Chicago RCV000152714 SCV002071122 benign not specified 2019-10-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000152714 SCV002548187 likely benign not specified 2022-05-14 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001657862 SCV001978112 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000152714 SCV001979941 benign not specified no assertion criteria provided clinical testing
Natera, Inc. RCV000633529 SCV002093078 benign Smith-Lemli-Opitz syndrome 2017-05-05 no assertion criteria provided clinical testing

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