Submissions for variant NM_001267550.2(TTN):c.32706G>A (p.Ala10902=)

gnomAD frequency: 0.00018  dbSNP: rs372124201

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000220756	SCV000271009	likely benign	not specified	2015-06-23	criteria provided, single submitter	clinical testing	p.Ala9658Ala in exon 129 of TTN: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 6/16274 South Asi an chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinsti tute.org; dbSNP rs372124201).
Eurofins Ntd Llc (ga)	RCV000726054	SCV000341524	uncertain significance	not provided	2016-06-09	criteria provided, single submitter	clinical testing
Invitae	RCV001087256	SCV001006686	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-13	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000220756	SCV001338040	likely benign	not specified	2020-01-06	criteria provided, single submitter	clinical testing
GeneDx	RCV000726054	SCV001767241	likely benign	not provided	2021-07-26	criteria provided, single submitter	clinical testing