ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.864T>C (p.Cys288=)

gnomAD frequency: 0.00036  dbSNP: rs142521666
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000640906 SCV000762510 benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2025-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001644726 SCV001858733 benign not provided 2019-09-23 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279462 SCV002565238 benign Ehlers-Danlos syndrome 2021-04-14 criteria provided, single submitter clinical testing

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