ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.88296C>T (p.Ile29432=)

gnomAD frequency: 0.00001  dbSNP: rs370287542
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000546582 SCV000643839 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-12-11 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001260335 SCV001437267 likely benign not specified 2020-09-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002358525 SCV002655460 likely benign Cardiovascular phenotype 2019-11-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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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