ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.55986C>T (p.Val18662=)

gnomAD frequency: 0.00001  dbSNP: rs747136342
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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) RCV000593469 SCV000703367 uncertain significance not provided 2016-11-21 criteria provided, single submitter clinical testing
Invitae RCV001504997 SCV001709887 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2020-09-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002438534 SCV002747101 likely benign Cardiovascular phenotype 2021-08-24 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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