ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.1782C>G (p.Tyr594Ter)

dbSNP: rs797045336
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192830 SCV000246651 pathogenic Menkes kinky-hair syndrome 2013-02-08 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000192830 SCV001428549 pathogenic Menkes kinky-hair syndrome 2018-05-02 criteria provided, single submitter clinical testing This variant was identified as hemizygous
Revvity Omics, Revvity RCV003488446 SCV004238409 pathogenic not provided 2023-06-21 criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium Ii, University Of Miami RCV000192830 SCV004011856 uncertain significance Menkes kinky-hair syndrome 2016-01-06 no assertion criteria provided literature only

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