Submissions for variant NM_001267550.2(TTN):c.93255G>A (p.Pro31085=)

gnomAD frequency: 0.00011  dbSNP: rs372611171

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000597642	SCV000707862	uncertain significance	not provided	2017-04-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000619890	SCV000735467	likely benign	Cardiovascular phenotype	2016-07-31	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae	RCV001078576	SCV001002711	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000597642	SCV001817293	likely benign	not provided	2020-04-13	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000597642	SCV001926977	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000597642	SCV001975600	likely benign	not provided		no assertion criteria provided	clinical testing