ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.48624T>C (p.Pro16208=)

gnomAD frequency: 0.00015  dbSNP: rs72677240
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000184101 SCV000236650 benign not specified 2014-10-22 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) RCV000725723 SCV000338857 uncertain significance not provided 2017-01-05 criteria provided, single submitter clinical testing
Invitae RCV001085243 SCV000555291 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-12-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002426890 SCV002729276 likely benign Cardiovascular phenotype 2019-08-01 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150062 SCV003838612 likely benign Cardiomyopathy 2021-06-07 criteria provided, single submitter clinical testing

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