ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.216T>C (p.Asp72=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005219444 SCV005856053 likely benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2024-05-15 criteria provided, single submitter clinical testing

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