ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.54947C>G (p.Thr18316Ser)

gnomAD frequency: 0.00006  dbSNP: rs758527900
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000262677 SCV000335925 likely benign not specified 2015-09-29 criteria provided, single submitter clinical testing
Invitae RCV000476068 SCV000555331 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001537806 SCV000714740 likely benign not provided 2019-10-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619573 SCV000736958 likely benign Cardiovascular phenotype 2017-12-04 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000262677 SCV002041798 likely benign not specified 2021-11-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840461 SCV002100500 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840462 SCV002100501 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840463 SCV002100502 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840460 SCV002100503 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing

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