ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.37202-4T>C

gnomAD frequency: 0.01693  dbSNP: rs202032281
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001083567 SCV000261581 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-24 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000203833 SCV001146387 benign not provided 2019-07-18 criteria provided, single submitter clinical testing
GeneDx RCV000203833 SCV001888094 benign not provided 2018-06-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840321 SCV002101320 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840322 SCV002101321 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840323 SCV002101322 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840320 SCV002101323 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000203833 SCV002036690 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001796728 SCV002037702 benign not specified no assertion criteria provided clinical testing

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