ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.2437A>G (p.Ile813Val)

gnomAD frequency: 0.00001  dbSNP: rs1557234931
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001246666 SCV001420039 likely benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2023-10-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835278 SCV002089076 uncertain significance Menkes kinky-hair syndrome 2021-03-10 no assertion criteria provided clinical testing

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