ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.843C>A (p.Phe281Leu)

gnomAD frequency: 0.00001  dbSNP: rs1039952708
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001508044 SCV001713945 uncertain significance not provided 2020-12-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001865932 SCV002258834 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

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