ClinVar Miner

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

dbSNP: rs779159076
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252153 SCV000315404 benign not specified criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000578080 SCV000679951 benign Dilated cardiomyopathy 1G 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000577965 SCV000679952 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000578017 SCV000679953 benign Tibial muscular dystrophy 2017-08-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000577965 SCV002100078 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840434 SCV002100080 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840435 SCV002100081 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000578017 SCV002100082 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing

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