ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.91533T>G (p.Ser30511=)

gnomAD frequency: 0.00001  dbSNP: rs772824909
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000616149 SCV000718853 likely benign not specified 2017-04-21 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 RCV000874663 SCV001016867 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003326472 SCV004033800 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing TTN: BP4, BP7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000616149 SCV004038598 likely benign not specified 2023-08-19 criteria provided, single submitter clinical testing

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