ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.3028A>G (p.Thr1010Ala)

gnomAD frequency: 0.00001  dbSNP: rs782480109
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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 RCV000800485 SCV000940203 likely benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2024-12-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835967 SCV002089085 uncertain significance Menkes kinky-hair syndrome 2021-03-25 no assertion criteria provided clinical testing

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