ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.4389T>C (p.Ser1463=) (rs371939448)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001082178 SCV000639994 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
GeneDx RCV000615561 SCV000728902 benign not specified 2017-05-19 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000659170 SCV000780986 likely benign not provided 2017-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719304 SCV000850170 likely benign History of neurodevelopmental disorder 2016-09-01 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;In silico models in agreement (benign)

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