ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.50520C>T (p.Pro16840=)

gnomAD frequency: 0.00003  dbSNP: rs373185065
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002448209 SCV002732505 likely benign Cardiovascular phenotype 2020-03-02 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003098808 SCV002945362 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-12-02 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV005405917 SCV006068780 likely benign not specified 2025-04-09 criteria provided, single submitter clinical testing BP6;BP7

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