Submissions for variant NM_001267550.2(TTN):c.9674A>G (p.Asn3225Ser) (rs202011992)

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health	RCV000172455	SCV000051336	uncertain significance	not provided	2013-06-24	criteria provided, single submitter	research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine	RCV000040942	SCV000064633	likely benign	not specified	2018-04-27	criteria provided, single submitter	clinical testing	The p.Asn3225Ser variant in TTN is classified as likely benign because it has be en identified 0.01% (11/126504) of European chromosomes by the Genome Aggregatio n Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs202011992). In add ition, this variant was identified by this laboratory in 2 individuals who carri ed other variants sufficient to explain their cardiomyopathy. One carried a like ly pathogenic variant in TTN and the other carried a likely pathogenic ATCT1 var iant. ACMG/AMP Criteria applied: BS1_Supporting; BP2; BP5.
Invitae	RCV000544021	SCV000643965	uncertain significance	Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J	2017-08-30	criteria provided, single submitter	clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics	RCV000172455	SCV000701159	uncertain significance	not provided	2017-02-06	criteria provided, single submitter	clinical testing
GeneDx	RCV000172455	SCV000730331	likely benign	not provided	2020-10-02	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24503780, 31983221)
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario	RCV000769101	SCV000900474	uncertain significance	Cardiomyopathy	2016-05-20	criteria provided, single submitter	clinical testing