ClinVar Miner

Submissions for variant NM_001360.3(DHCR7):c.964-67C>T

gnomAD frequency: 0.83849  dbSNP: rs1792268
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001533356 SCV001749227 benign Smith-Lemli-Opitz syndrome 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001647371 SCV001861098 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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