ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.73822G>A (p.Ala24608Thr)

gnomAD frequency: 0.00004  dbSNP: rs750166986
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000643293 SCV000764980 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-09-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002331181 SCV002633786 likely benign Cardiovascular phenotype 2020-06-24 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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