ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.1946+1G>T

dbSNP: rs797045340
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV001254118 SCV001430050 pathogenic Cutis laxa, X-linked 2020-04-21 criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium Ii, University Of Miami RCV003311971 SCV004012000 uncertain significance Menkes kinky-hair syndrome 2016-01-06 no assertion criteria provided literature only

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