ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.14049C>T (p.Ser4683=)

gnomAD frequency: 0.00009  dbSNP: rs370208081
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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) RCV000713969 SCV000334396 uncertain significance not provided 2015-08-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619237 SCV000735810 likely benign Cardiovascular phenotype 2017-03-14 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.
Athena Diagnostics Inc RCV000713969 SCV000844622 likely benign not provided 2018-06-28 criteria provided, single submitter clinical testing
Invitae RCV001401383 SCV001603206 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-12-18 criteria provided, single submitter clinical testing
GeneDx RCV000713969 SCV001813721 likely benign not provided 2020-01-31 criteria provided, single submitter clinical testing

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