ClinVar Miner

Submissions for variant NM_018161.5(NADSYN1):c.145T>C (p.Cys49Arg)

gnomAD frequency: 0.00001  dbSNP: rs769220327
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Embryology Laboratory, Victor Chang Cardiac Research Institute RCV003758992 SCV004025914 pathogenic Vertebral, cardiac, renal, and limb defects syndrome 3 2023-05-10 criteria provided, single submitter research
Embryology Laboratory, Victor Chang Cardiac Research Institute RCV001078186 SCV001244272 pathogenic Congenital NAD deficiency disorder 2019-12-01 no assertion criteria provided research This variant, c.145T>C, was found in compound heterozygosity with the pathogenic variant c.395G>T

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