ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.30129T>C (p.His10043=)

gnomAD frequency: 0.00003  dbSNP: rs764724866
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000457498 SCV000555211 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-09-10 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000601591 SCV000712213 likely benign not specified 2016-08-04 criteria provided, single submitter clinical testing p.His8799His in exon 103 of TTN: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 3/66736 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitut e.org; dbSNP rs764724866).
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170633 SCV001333224 likely benign Cardiomyopathy 2018-04-16 criteria provided, single submitter clinical testing

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