ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.1996G>C (p.Gly666Arg)

dbSNP: rs797045344
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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 RCV000194915 SCV000246664 pathogenic Menkes kinky-hair syndrome 2013-02-08 criteria provided, single submitter clinical testing
Undiagnosed Diseases Network, NIH RCV000194915 SCV001245602 pathogenic Menkes kinky-hair syndrome 2019-09-22 criteria provided, single submitter clinical testing
Baylor Genetics RCV001330731 SCV001522507 pathogenic Cutis laxa, X-linked 2020-01-24 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Inherited Neuropathy Consortium Ii, University Of Miami RCV000194915 SCV004012013 uncertain significance Menkes kinky-hair syndrome 2016-01-06 no assertion criteria provided literature only

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