ClinVar Miner

Submissions for variant NM_001360.2(DHCR7):c.356A>T (p.His119Leu) (rs28938174)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000274996 SCV000329332 pathogenic not provided 2016-09-22 criteria provided, single submitter clinical testing The H119L missense pathogenic variant has been reported previously in association with SLOS (Witsch-Baumgartner et al., 2001).
OMIM RCV000007182 SCV000027378 pathogenic Smith-Lemli-Opitz syndrome 1998-08-01 no assertion criteria provided literature only

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