ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.1256T>C (p.Val419Ala)

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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 RCV002775832 SCV003030128 likely benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2024-01-07 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003146631 SCV003834470 uncertain significance not provided 2019-11-13 criteria provided, single submitter clinical testing

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