ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.52656T>C (p.Pro17552=)

gnomAD frequency: 0.00025  dbSNP: rs371031259
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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) RCV000176348 SCV000333574 uncertain significance not provided 2015-08-24 criteria provided, single submitter clinical testing
Invitae RCV001089153 SCV001006466 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-15 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV001288570 SCV001475779 benign not specified 2020-07-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002426849 SCV002742907 likely benign Cardiovascular phenotype 2019-12-11 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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