ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.88895-18C>T

gnomAD frequency: 0.00002  dbSNP: rs547463003
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000435051 SCV000515178 benign not specified 2016-10-07 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000435051 SCV001448407 benign not specified 2020-11-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840533 SCV002102241 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840534 SCV002102242 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840535 SCV002102243 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840532 SCV002102244 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002061566 SCV002465354 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-28 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000435051 SCV001918027 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000435051 SCV001929179 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000435051 SCV001972483 benign not specified no assertion criteria provided clinical testing

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