ClinVar Miner

Submissions for variant NM_001360.3(DHCR7):c.1269C>T (p.Gly423=)

gnomAD frequency: 0.00010  dbSNP: rs145374203
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000878006 SCV001020843 likely benign Smith-Lemli-Opitz syndrome 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002372500 SCV002684257 likely benign Inborn genetic diseases 2018-07-09 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.
PreventionGenetics, part of Exact Sciences RCV003967950 SCV004782234 likely benign DHCR7-related disorder 2021-05-19 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV000878006 SCV002092998 likely benign Smith-Lemli-Opitz syndrome 2017-08-09 no assertion criteria provided clinical testing

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