ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.104205G>A (p.Thr34735=)

gnomAD frequency: 0.00007  dbSNP: rs752424146
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000643490 SCV000765177 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-05 criteria provided, single submitter clinical testing
GeneDx RCV001559954 SCV001782282 likely benign not provided 2019-10-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840726 SCV002099833 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840727 SCV002099845 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840728 SCV002099856 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840725 SCV002099867 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002397238 SCV002673223 benign Cardiovascular phenotype 2021-06-05 criteria provided, single submitter clinical testing This alteration is classified as 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.

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