ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.2581C>T (p.Arg861Cys)

gnomAD frequency: 0.00001  dbSNP: rs781892236
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000546268 SCV000639976 likely benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2024-08-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004808762 SCV005436682 likely benign not provided 2024-11-01 criteria provided, single submitter clinical testing ATP7A: BS2

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