ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.44157T>C (p.Asp14719=)

gnomAD frequency: 0.00002  dbSNP: rs760908766
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516413 SCV000616083 likely benign not specified 2016-09-27 criteria provided, single submitter clinical testing
Invitae RCV001467045 SCV001671061 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-09-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV003362811 SCV004053248 likely benign Cardiovascular phenotype 2023-07-10 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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