ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.30309T>C (p.Phe10103=)

gnomAD frequency: 0.00009  dbSNP: rs762141482
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725099 SCV000334003 uncertain significance not provided 2015-08-13 criteria provided, single submitter clinical testing
GeneDx RCV000338923 SCV000515110 benign not specified 2015-08-21 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 RCV001088764 SCV000555225 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000725099 SCV001153006 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing TTN: BP4, BP7
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150148 SCV003838026 likely benign Cardiomyopathy 2022-12-29 criteria provided, single submitter clinical testing

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