ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.47598A>G (p.Leu15866=)

gnomAD frequency: 0.00006  dbSNP: rs879099244
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726885 SCV000703865 uncertain significance not provided 2016-12-01 criteria provided, single submitter clinical testing
GeneDx RCV000726885 SCV000716733 likely benign not provided 2018-09-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001505310 SCV001710203 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002420571 SCV002720279 benign Cardiovascular phenotype 2021-05-05 criteria provided, single submitter clinical testing This alteration is classified as 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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