ClinVar Miner

Submissions for variant NM_001360.3(DHCR7):c.375C>T (p.Tyr125=)

gnomAD frequency: 0.00003  dbSNP: rs779401555
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000291809 SCV000339844 uncertain significance not provided 2016-02-29 criteria provided, single submitter clinical testing
Invitae RCV001493916 SCV001698560 likely benign Smith-Lemli-Opitz syndrome 2023-12-31 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002307479 SCV002600726 likely benign not specified 2022-10-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002348006 SCV002619699 likely benign Inborn genetic diseases 2022-08-01 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.
Natera, Inc. RCV001493916 SCV002093060 likely benign Smith-Lemli-Opitz syndrome 2018-01-18 no assertion criteria provided clinical testing

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