ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.34505G>T (p.Gly11502Val)

gnomAD frequency: 0.00214  dbSNP: rs190209925
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001081567 SCV000543037 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000474730 SCV001146377 benign not provided 2018-12-27 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000474730 SCV001473027 likely benign not provided 2023-11-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840572 SCV002101405 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840573 SCV002101406 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840574 SCV002101407 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840571 SCV002101408 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000474730 SCV001921527 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000474730 SCV001932914 likely benign not provided no assertion criteria provided clinical testing

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