ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.2917-7T>C

gnomAD frequency: 0.00001  dbSNP: rs376898023
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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 RCV001444542 SCV001647548 likely benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2023-10-27 criteria provided, single submitter clinical testing

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