ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.3547G>A (p.Gly1183Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV004698367 SCV005085878 uncertain significance Cutis laxa, X-linked criteria provided, single submitter clinical testing

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