ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.38880A>G (p.Pro12960=)

gnomAD frequency: 0.02192  dbSNP: rs2742354
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000464256 SCV000555447 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-02-01 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000993432 SCV001146394 benign not provided 2018-12-18 criteria provided, single submitter clinical testing
GeneDx RCV000993432 SCV001902024 benign not provided 2018-06-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840595 SCV002101266 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840596 SCV002101267 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840597 SCV002101268 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840594 SCV002101271 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001796064 SCV002036791 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001796064 SCV002038262 benign not specified no assertion criteria provided clinical testing

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