ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.1374A>G (p.Ser458=)

dbSNP: rs2077718812
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278082 SCV002566156 uncertain significance Ehlers-Danlos syndrome 2021-06-25 criteria provided, single submitter clinical testing
Invitae RCV003101590 SCV003499130 likely benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2022-01-21 criteria provided, single submitter clinical testing

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