ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.4270C>T (p.Pro1424Ser)

dbSNP: rs772479207
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001509198 SCV000237993 likely benign not provided 2020-09-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765591 SCV000896906 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2018-10-31 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001509198 SCV001715782 uncertain significance not provided 2019-12-03 criteria provided, single submitter clinical testing

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