ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.645T>C (p.Tyr215=)

gnomAD frequency: 0.00004  dbSNP: rs782587854
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000609826 SCV000723220 likely benign not provided 2018-05-17 criteria provided, single submitter clinical testing
Invitae RCV000945348 SCV001091349 benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2024-01-10 criteria provided, single submitter clinical testing

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