ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.105085T>C (p.Leu35029=)

gnomAD frequency: 0.00005  dbSNP: rs374678473
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000546246 SCV000642567 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2025-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001544934 SCV001764162 likely benign not provided 2020-12-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840632 SCV002101820 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840633 SCV002101831 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840634 SCV002101842 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840631 SCV002101853 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002413544 SCV002673264 likely benign Cardiovascular phenotype 2022-07-10 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.
Clinical Genetics, Academic Medical Center RCV001796107 SCV002034580 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001544934 SCV002037865 likely benign not provided no assertion criteria provided clinical testing

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