ClinVar Miner

Submissions for variant NM_001360.2(DHCR7):c.832-1G>C (rs80338863)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000007178 SCV000027374 pathogenic Smith-Lemli-Opitz syndrome 2008-04-01 no assertion criteria provided literature only
GeneReviews RCV000007178 SCV000040854 pathologic Smith-Lemli-Opitz syndrome 2007-10-24 no assertion criteria provided curation Converted during submission to Pathogenic.

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