ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.44223G>A (p.Thr14741=)

gnomAD frequency: 0.00003  dbSNP: rs368830196
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591544 SCV000707436 uncertain significance not provided 2017-04-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002404610 SCV002714161 likely benign Cardiovascular phenotype 2019-06-25 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.
CeGaT Center for Human Genetics Tuebingen RCV000591544 SCV003916192 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing TTN: BP4, BP7

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