ClinVar Miner

Submissions for variant NM_001360.3(DHCR7):c.964-6C>T

gnomAD frequency: 0.00005  dbSNP: rs772882845
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001501029 SCV001705833 likely benign Smith-Lemli-Opitz syndrome 2024-01-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003908789 SCV004727722 likely benign DHCR7-related condition 2023-05-30 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).

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