ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.99866-10C>T

gnomAD frequency: 0.00034  dbSNP: rs773128928
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000184115 SCV000236696 benign not specified 2014-09-23 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.
Invitae RCV000472360 SCV000555445 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-17 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000184115 SCV001475828 benign not specified 2020-09-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840279 SCV002101694 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840280 SCV002101696 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840281 SCV002101697 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840278 SCV002101698 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000184115 SCV002600837 uncertain significance not specified 2022-10-30 criteria provided, single submitter clinical testing

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