ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.15333C>T (p.Asp5111=)

gnomAD frequency: 0.00014  dbSNP: rs368695667
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000433890 SCV000531607 likely benign not specified 2017-08-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000559507 SCV000642711 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488953 SCV002803340 likely benign 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 2021-10-14 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003138005 SCV003820328 likely benign not provided 2023-09-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003138005 SCV005093032 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing TTN: BP4, BP7

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