ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.25041T>C (p.Ser8347=)

gnomAD frequency: 0.00002  dbSNP: rs397517512
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Total submissions: 3
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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 RCV000040018 SCV000063709 likely benign not specified 2011-12-23 criteria provided, single submitter clinical testing Ser7103Ser in exon 83 of TTN: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. Ser7103Ser in exon 83 of TTN (allele frequenc y = n/a)
GeneDx RCV000040018 SCV000533465 likely benign not specified 2017-10-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001495193 SCV001699863 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-12-03 criteria provided, single submitter clinical testing

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