ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.49041C>T (p.Asn16347=)

gnomAD frequency: 0.00002  dbSNP: rs369981635
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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 RCV000643908 SCV000765595 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-12-10 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003486907 SCV004239922 likely benign Cardiomyopathy 2023-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004025649 SCV005020448 likely benign Cardiovascular phenotype 2023-12-02 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.

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