ClinVar Miner

Submissions for variant NM_001360.3(DHCR7):c.627C>A (p.Cys209Ter)

dbSNP: rs1949322246
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV001263646 SCV001441738 likely pathogenic Smith-Lemli-Opitz syndrome 2020-01-30 criteria provided, single submitter clinical testing

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