ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.52950A>G (p.Ala17650=)

gnomAD frequency: 0.00001  dbSNP: rs774191524
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000254224 SCV000319066 likely benign Cardiovascular phenotype 2013-11-14 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002058501 SCV002398189 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-10-09 criteria provided, single submitter clinical testing

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