ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.37956G>T (p.Val12652=)

gnomAD frequency: 0.00016  dbSNP: rs541757326
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001081813 SCV000555480 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-08-17 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000457678 SCV001146389 benign not provided 2019-02-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840599 SCV002101294 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840600 SCV002101295 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840601 SCV002101296 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840598 SCV002101297 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing

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