ClinVar Miner

Submissions for variant NM_003937.3(KYNU):c.616G>A (p.Glu206Lys)

gnomAD frequency: 0.00002  dbSNP: rs765122670
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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 RCV001391063 SCV001449135 likely pathogenic Congenital NAD deficiency disorder 2020-11-11 no assertion criteria provided research This variant, c.616G>A, was found in one homozygous child
OMIM RCV003883467 SCV004697940 pathogenic Vertebral, cardiac, renal, and limb defects syndrome 2 2024-03-06 no assertion criteria provided literature only

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