ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.1448A>G (p.Glu483Gly)

gnomAD frequency: 0.00001  dbSNP: rs781834607
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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 RCV001366288 SCV001562588 likely benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2023-08-10 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003145627 SCV003834468 uncertain significance not provided 2021-08-03 criteria provided, single submitter clinical testing

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