ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.96904+8C>T

gnomAD frequency: 0.00001  dbSNP: rs528358945
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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 RCV000152173 SCV000200902 likely benign not specified 2014-07-01 criteria provided, single submitter clinical testing 89200+8C>T in intron 296 of TTN: This variant is not expected to have clinical s ignificance because it does not diverge from the splice site consensus sequence and computational tools do not predict an impact to splicing.
Invitae RCV000863554 SCV001004241 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-27 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840068 SCV002102090 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840069 SCV002102091 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840070 SCV002102092 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840067 SCV002102093 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing

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