ClinVar Miner

Submissions for variant NM_001360.3(DHCR7):c.586A>G (p.Met196Val)

gnomAD frequency: 0.00026  dbSNP: rs200474791
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001510852 SCV001717994 benign Smith-Lemli-Opitz syndrome 2024-02-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001510852 SCV002800680 benign Smith-Lemli-Opitz syndrome 2022-03-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001510852 SCV002093039 likely benign Smith-Lemli-Opitz syndrome 2019-03-22 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004749707 SCV005366614 likely benign DHCR7-related disorder 2022-06-21 no assertion criteria provided 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).

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