ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.88152G>A (p.Lys29384=)

gnomAD frequency: 0.00001  dbSNP: rs1206935877
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001480070 SCV001684382 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2022-09-28 criteria provided, single submitter clinical testing
GeneDx RCV000924650 SCV001844606 benign not provided 2016-06-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840771 SCV002102277 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840772 SCV002102278 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840773 SCV002102279 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840770 SCV002102280 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing

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