ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.1152T>C (p.Asp384=)

gnomAD frequency: 0.00001  dbSNP: rs147225045
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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 RCV001444931 SCV001647949 likely benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2024-03-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832148 SCV002089044 likely benign Menkes kinky-hair syndrome 2020-09-28 no assertion criteria provided clinical testing

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