ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.83081G>A (p.Arg27694His)

gnomAD frequency: 0.00019  dbSNP: rs775499341
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704702 SCV000714133 likely benign not provided 2018-06-05 criteria provided, single submitter clinical testing
Invitae RCV000861017 SCV001001220 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-12-18 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000608835 SCV001475033 benign not specified 2020-03-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840690 SCV002102338 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840691 SCV002102340 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840692 SCV002102341 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840689 SCV002102342 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing

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