ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.50355-15T>C

gnomAD frequency: 0.00003  dbSNP: rs757425897
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000441540 SCV000533288 likely benign not specified 2017-05-16 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.
Invitae RCV002059991 SCV002386922 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-11-24 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529331 SCV001742592 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000441540 SCV001925112 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001529331 SCV001927603 likely benign not provided no assertion criteria provided clinical testing

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