ClinVar Miner

Submissions for variant NM_001360.3(DHCR7):c.159C>T (p.Ile53=)

gnomAD frequency: 0.00004  dbSNP: rs752952700
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000633528 SCV000754772 likely benign Smith-Lemli-Opitz syndrome 2024-01-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003403449 SCV004137205 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing DHCR7: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003892431 SCV004712348 likely benign DHCR7-related disorder 2021-09-30 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. RCV000633528 SCV002093074 likely benign Smith-Lemli-Opitz syndrome 2020-01-20 no assertion criteria provided clinical testing

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