ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.106578_106580delinsAGT (p.Glu35527Val)

dbSNP: rs386653129
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001171219 SCV001333921 uncertain significance Cardiomyopathy 2019-03-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002418602 SCV002677373 benign Cardiovascular phenotype 2022-04-12 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.
Fulgent Genetics, Fulgent Genetics RCV002483932 SCV002792536 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2021-09-16 criteria provided, single submitter clinical testing

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