ClinVar Miner

Submissions for variant NM_018161.5(NADSYN1):c.1819del (p.Val607fs)

dbSNP: rs1327307171
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV001035450 SCV001198777 pathogenic Vertebral, cardiac, renal, and limb defects syndrome 3 2020-04-10 no assertion criteria provided literature only
Embryology Laboratory, Victor Chang Cardiac Research Institute RCV001078185 SCV001244271 pathogenic Congenital NAD deficiency disorder 2019-12-01 no assertion criteria provided research This variant, c.1819del, was found in compound heterozygosity with the pathogenic variant c.1717G>A

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