ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.94593G>A (p.Ala31531=)

gnomAD frequency: 0.00011  dbSNP: rs373301015
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703513 SCV000515181 likely benign not provided 2018-11-09 criteria provided, single submitter clinical testing
Invitae RCV000643784 SCV000765471 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-12-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002365480 SCV002664632 likely benign Cardiovascular phenotype 2020-05-12 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.
Revvity Omics, Revvity Omics RCV001703513 SCV003820335 uncertain significance not provided 2022-05-16 criteria provided, single submitter clinical testing

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