ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.1933C>T (p.Arg645Ter) (rs72554640)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757017 SCV000885042 pathogenic not provided 2017-08-16 criteria provided, single submitter clinical testing
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics RCV000193235 SCV000844970 pathogenic Menkes kinky-hair syndrome 2018-09-18 no assertion criteria provided clinical testing The observed variant c.1933C>T has not been reported in 1000 Genomes and ExAC databases. The in silico prediction of the given variant is damaging by MutationTaster2 and LRT.
Genetic Services Laboratory, University of Chicago RCV000193235 SCV000246657 pathogenic Menkes kinky-hair syndrome 2013-02-08 criteria provided, single submitter clinical testing

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