ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.101622C>T (p.Asn33874=)

gnomAD frequency: 0.00002  dbSNP: rs780835388
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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 RCV002205814 SCV002370624 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002382318 SCV002671682 likely benign Cardiovascular phenotype 2018-01-06 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.
Revvity Omics, Revvity RCV003138073 SCV003821181 uncertain significance not provided 2019-09-20 criteria provided, single submitter clinical testing

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