ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.14424G>C (p.Val4808=)

gnomAD frequency: 0.00019  dbSNP: rs374479775
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000225699 SCV000236732 benign not specified 2014-09-19 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.
Eurofins Ntd Llc (ga) RCV000725707 SCV000338759 uncertain significance not provided 2016-01-26 criteria provided, single submitter clinical testing
Invitae RCV001084587 SCV000642694 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-02-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000725707 SCV000884772 benign not provided 2018-02-21 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170874 SCV001333496 benign Cardiomyopathy 2017-11-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000725707 SCV001501775 uncertain significance not provided 2020-09-01 criteria provided, single submitter clinical testing

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