ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.28970C>T (p.Ser9657Leu)

gnomAD frequency: 0.00081  dbSNP: rs200049911
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Total submissions: 10
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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 RCV000040086 SCV000063777 likely benign not specified 2015-09-22 criteria provided, single submitter clinical testing p.Ser8413Leu in exon 97 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 0.3% (31/9754) of African chromosom es by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org/; d bSNP rs200049911).
GeneDx RCV000714006 SCV000237043 likely benign not provided 2021-10-19 criteria provided, single submitter clinical testing
Invitae RCV001084892 SCV000286557 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000714006 SCV000844666 benign not provided 2017-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839568 SCV002101922 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839569 SCV002101923 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839570 SCV002101924 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839567 SCV002101925 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000040086 SCV001920642 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000714006 SCV001965488 likely benign not provided no assertion criteria provided clinical testing

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