ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.102195G>A (p.Ser34065=)

gnomAD frequency: 0.00001  dbSNP: rs757037792
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000876407 SCV001018974 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-08-19 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001799004 SCV002043109 likely benign Cardiomyopathy 2020-07-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002390843 SCV002672616 likely benign Cardiovascular phenotype 2019-07-31 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.

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