ClinVar Miner

Submissions for variant NM_012205.3(HAAO):c.43del (p.Arg15fs)

dbSNP: rs1558680405
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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 RCV001391059 SCV001449131 pathogenic Congenital NAD deficiency disorder 2020-11-11 no assertion criteria provided research This variant, c.43del, was found in one homozygous child
OMIM RCV002265974 SCV002549039 pathogenic Vertebral, cardiac, renal, and limb defects syndrome 1 2022-07-15 no assertion criteria provided literature only

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