ClinVar Miner

Submissions for variant NM_001360.3(DHCR7):c.636A>T (p.Thr212=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003031210 SCV003322365 likely benign Smith-Lemli-Opitz syndrome 2024-03-12 criteria provided, single submitter clinical testing

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