ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.86700C>T (p.Asn28900=)

gnomAD frequency: 0.00006  dbSNP: rs727504793
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Total submissions: 6
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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 RCV000156119 SCV000205833 likely benign not specified 2013-11-11 criteria provided, single submitter clinical testing Asn26332Asn in exon 275 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. It has was absent from large population stud ies. Asn26332Asn in exon 275 of TTN (allele frequency = n/a)
Eurofins Ntd Llc (ga) RCV000727138 SCV000706074 uncertain significance not provided 2017-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000727138 SCV000716566 likely benign not provided 2020-09-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001086613 SCV000765102 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-10-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002354380 SCV002654856 likely benign Cardiovascular phenotype 2020-10-07 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000156119 SCV004038655 likely benign not specified 2023-08-19 criteria provided, single submitter clinical testing

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