ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.1516A>G (p.Ile506Val) (rs143907597)

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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 RCV000193020 SCV000246645 uncertain significance not specified 2013-02-08 criteria provided, single submitter clinical testing
GeneDx RCV000193020 SCV000512204 benign not specified 2015-06-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000534012 SCV000639964 benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; Distal spinal muscular atrophy, X-linked 3 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717353 SCV000848203 benign History of neurodevelopmental disorder 2016-11-04 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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