ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.4244A>G (p.Tyr1415Cys)

gnomAD frequency: 0.00003  dbSNP: rs1280037924
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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 RCV000640897 SCV000762501 likely benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2024-10-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835032 SCV002089107 uncertain significance Menkes kinky-hair syndrome 2019-10-28 no assertion criteria provided clinical testing

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