Submissions for variant NM_001267550.2(TTN):c.60232G>A (p.Val20078Met)

gnomAD frequency: 0.00719  dbSNP: rs77351975

Total submissions: 18

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000040430	SCV000054971	benign	not specified	2013-06-24	criteria provided, single submitter	research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000040430	SCV000064121	benign	not specified	2012-08-15	criteria provided, single submitter	clinical testing	Val17510Met in Exon 253 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 2.2% (67/3038) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs77351975).
GeneDx	RCV000040430	SCV000236664	benign	not specified	2014-07-09	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	RCV000231356	SCV000286757	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000243101	SCV000318800	benign	Cardiovascular phenotype	2017-09-28	criteria provided, single submitter	clinical testing	General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000768974	SCV000900347	benign	Cardiomyopathy	2022-11-25	criteria provided, single submitter	clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego	RCV000852831	SCV000995561	benign	Cardiomyopathy; Long QT syndrome; Heart failure	2019-06-03	criteria provided, single submitter	clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV001197718	SCV001368497	benign	See cases	2018-11-07	criteria provided, single submitter	clinical testing	This variant was classified as: Benign. The following ACMG criteria were applied in classifying this variant: BS1,BS2.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000040430	SCV001370617	likely benign	not specified	2020-05-10	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000040430	SCV001475791	benign	not specified	2020-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839649	SCV002101102	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839650	SCV002101104	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839651	SCV002101105	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839648	SCV002101106	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000040430	SCV001919158	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000040430	SCV001956045	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000040430	SCV001969837	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000040430	SCV001977854	benign	not specified		no assertion criteria provided	clinical testing