Submissions for variant NM_001267550.2(TTN):c.34708+9G>T

dbSNP: rs397517551

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000040175	SCV000063866	likely benign	not specified	2012-05-24	criteria provided, single submitter	clinical testing	30805+9G>T in intron 146 of TTN: This variant is not expected to have clinical s ignificance because it is not located within the splice consensus sequence. 30 805+9G>T in intron 146 of TTN (allele frequency = n/a)
GeneDx	RCV000040175	SCV000531773	likely benign	not specified	2017-07-10	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.
Eurofins Ntd Llc (ga)	RCV000730362	SCV000858092	uncertain significance	not provided	2017-11-14	criteria provided, single submitter	clinical testing
Invitae	RCV001399669	SCV001601460	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-09	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000040175	SCV001924947	benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000730362	SCV001963605	likely benign	not provided		no assertion criteria provided	clinical testing