ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.1823A>G (p.Tyr608Cys) (rs61742278)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078033 SCV000109871 benign not specified 2013-01-15 criteria provided, single submitter clinical testing
GeneDx RCV000078033 SCV000714059 benign not specified 2018-03-06 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 RCV000640913 SCV000762517 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 RCV000716523 SCV000847364 benign History of neurodevelopmental disorder 2016-07-26 criteria provided, single submitter clinical testing Insufficient evidence;Subpopulation frequency in support of benign classification

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