ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.3357T>A (p.Ile1119=)

dbSNP: rs2149107179
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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 RCV002203415 SCV002483944 likely benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2021-06-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004729101 SCV005337600 likely benign ATP7A-related disorder 2024-08-23 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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