ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.43326A>G (p.Lys14442=)

gnomAD frequency: 0.00002  dbSNP: rs878977270
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000997475 SCV001152922 uncertain significance not provided 2017-07-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002400168 SCV002705259 likely benign Cardiovascular phenotype 2021-04-07 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.

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