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

Total submissions: 6

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