Submissions for variant NM_001276345.2(TNNT2):c.522C>A (p.Asn174Lys)

dbSNP: rs483352833

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000159302	SCV000209248	uncertain significance	not provided	2020-09-17	criteria provided, single submitter	clinical testing	Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute	RCV001089605	SCV001245079	uncertain significance	Hypertrophic cardiomyopathy	2018-10-16	criteria provided, single submitter	research	This variant has been identified as part of our research program. Refer to the 'condition' field for the phenotype of the proband(s) identified with this variant. For further information please feel free to contact us.
Genome-Nilou Lab	RCV003453228	SCV004181325	uncertain significance	Dilated cardiomyopathy 1D	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003453229	SCV004181326	uncertain significance	Cardiomyopathy, familial restrictive, 3	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003453227	SCV004181327	uncertain significance	Hypertrophic cardiomyopathy 2	2023-04-11	criteria provided, single submitter	clinical testing