ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.1722G>A (p.Thr574=)

gnomAD frequency: 0.00005  dbSNP: rs207478437
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000841578 SCV000983549 likely benign not provided 2020-07-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001089160 SCV001056218 likely benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2024-12-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825701 SCV002089060 likely benign Menkes kinky-hair syndrome 2020-07-23 no assertion criteria provided clinical testing

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