ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.2673T>G (p.Ala891=)

gnomAD frequency: 0.00005  dbSNP: rs782154912
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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 RCV001520175 SCV001729224 benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2024-05-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832710 SCV002089080 likely benign Menkes kinky-hair syndrome 2020-04-11 no assertion criteria provided clinical testing

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