ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.18456T>C (p.His6152=)

gnomAD frequency: 0.00001  dbSNP: rs756540833
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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 RCV000219059 SCV000270980 likely benign not specified 2015-06-11 criteria provided, single submitter clinical testing p.His4908His in exon 60 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 been identified in 0.1% (17/16508) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac. broadinstitute.org).
Labcorp Genetics (formerly Invitae), Labcorp RCV000872654 SCV001014505 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-08-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840341 SCV002099981 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840342 SCV002099982 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840343 SCV002099983 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840340 SCV002099984 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing

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