ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.100766-11_100766-10del

dbSNP: rs749872538
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000350670 SCV000332855 benign not specified 2015-07-23 criteria provided, single submitter clinical testing
GeneDx RCV001570029 SCV001794224 likely benign not provided 2019-08-21 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840465 SCV002100996 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840466 SCV002101007 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840467 SCV002101018 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840464 SCV002101030 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing

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