ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.1510G>A (p.Ala504Thr)

gnomAD frequency: 0.00024  dbSNP: rs781786942
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000983812 SCV001131838 likely benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2024-04-10 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003145243 SCV003834471 uncertain significance not provided 2022-04-21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV003145243 SCV005210667 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001274229 SCV001458102 uncertain significance Menkes kinky-hair syndrome 2020-01-24 no assertion criteria provided clinical testing

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