ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.15561G>A (p.Leu5187=)

gnomAD frequency: 0.00004  dbSNP: rs779159076
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247397 SCV000315403 benign not specified criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000578057 SCV000679948 benign Dilated cardiomyopathy 1G 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000577943 SCV000679949 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000577998 SCV000679950 benign Tibial muscular dystrophy 2017-08-01 criteria provided, single submitter clinical testing
Invitae RCV000868824 SCV001010200 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-12-19 criteria provided, single submitter clinical testing
GeneDx RCV001582888 SCV001812342 likely benign not provided 2019-09-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000577943 SCV002100083 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840432 SCV002100084 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840433 SCV002100085 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000577998 SCV002100086 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing

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