ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.3284A>G (p.Tyr1095Cys)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003147869 SCV003835239 uncertain significance Cutis laxa, X-linked 2022-06-28 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147870 SCV003835293 uncertain significance Menkes kinky-hair syndrome 2022-06-28 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147871 SCV003836331 uncertain significance X-linked distal spinal muscular atrophy type 3 2022-06-28 criteria provided, single submitter clinical testing

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