ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.42839A>G (p.Asp14280Gly)

gnomAD frequency: 0.00008  dbSNP: rs181902304
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172336 SCV000051270 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV000527067 SCV000643162 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2018-01-02 criteria provided, single submitter clinical testing
GeneDx RCV000172336 SCV001823478 likely benign not provided 2020-06-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002399618 SCV002707153 likely benign Cardiovascular phenotype 2020-09-02 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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