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: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001510852 SCV001717994 benign Smith-Lemli-Opitz syndrome 2023-05-16 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

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