ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.102024A>G (p.Leu34008=)

gnomAD frequency: 0.00002  dbSNP: rs727504677
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155946 SCV000205658 likely benign not specified 2013-08-14 criteria provided, single submitter clinical testing Leu31440Leu in exon 307 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. Leu31440Leu in exon 307 of TTN (allele freq uency = n/a)
Eurofins Ntd Llc (ga) RCV000725607 SCV000338110 uncertain significance not provided 2016-05-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001473677 SCV001677831 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-12-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002390361 SCV002668593 likely benign Cardiovascular phenotype 2022-06-14 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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