ClinVar Miner

Submissions for variant NM_001360.2(DHCR7):c.740C>T (p.Ala247Val) (rs886041354)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670451 SCV000795305 likely pathogenic Smith-Lemli-Opitz syndrome 2017-11-07 criteria provided, single submitter clinical testing
GeneDx RCV000383910 SCV000329857 pathogenic not provided 2017-12-08 criteria provided, single submitter clinical testing The A247V has also been reported in association with SLOS in several unrelated individuals who were also heterozygous for another pathogenic variant in the DHCR7 gene (Fitzky et al., 1998; Balogh et al., 2012; Sparks et al., 2014). We consider this variant to be pathogenic.

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