ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.99840T>C (p.Asp33280=)

gnomAD frequency: 0.00003  dbSNP: rs375178211
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729427 SCV000857089 uncertain significance not provided 2017-09-22 criteria provided, single submitter clinical testing
GeneDx RCV000729427 SCV000968637 likely benign not provided 2018-05-02 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001087404 SCV001020339 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-10-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002386293 SCV002672505 likely benign Cardiovascular phenotype 2019-08-27 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.

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