ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.3686A>T (p.Asp1229Val) (rs146920285)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000713265 SCV000218575 likely benign not provided 2019-03-04 criteria provided, single submitter clinical testing
GeneDx RCV000237055 SCV000292687 likely benign not specified 2017-08-18 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.
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000237055 SCV000297314 uncertain significance not specified 2015-11-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000713265 SCV000339049 uncertain significance not provided 2016-01-22 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713265 SCV000843854 likely benign not provided 2018-06-14 criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000789576 SCV000928932 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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