ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.6303C>T (p.Val2101=)

dbSNP: rs937168906
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001470659 SCV001674756 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-09-20 criteria provided, single submitter clinical testing
GeneDx RCV000931658 SCV001872406 benign not provided 2017-05-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840775 SCV002101456 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840776 SCV002101458 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840777 SCV002101459 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840774 SCV002101460 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003486944 SCV004240074 likely benign Cardiomyopathy 2022-07-06 criteria provided, single submitter clinical testing

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