Submissions for variant NM_003289.4(TPM2):c.773-5_773-3dup

dbSNP: rs35401252

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000333376	SCV000479898	uncertain significance	Arthrogryposis multiplex congenita	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000385600	SCV000479899	uncertain significance	Nemaline Myopathy, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000613573	SCV000730016	likely benign	not specified	2017-05-12	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001513467	SCV001721085	benign	Arthrogryposis, distal, type 1A	2024-07-27	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003430971	SCV004157721	benign	not provided	2022-04-01	criteria provided, single submitter	clinical testing	TPM2: BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV004530486	SCV004735908	likely benign	TPM2-related disorder	2019-03-18	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).