ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.44367C>T (p.Tyr14789=)

gnomAD frequency: 0.00003  dbSNP: rs750270873
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000614278 SCV000726544 likely benign not specified 2018-01-03 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 RCV001431337 SCV001634092 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-01-20 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000614278 SCV002014841 likely benign not specified 2021-10-09 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001726264 SCV003800310 likely benign not provided 2022-04-27 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000614278 SCV001925667 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001726264 SCV001963559 likely benign not provided no assertion criteria provided clinical testing

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