ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.71844T>C (p.Pro23948=)

gnomAD frequency: 0.00004  dbSNP: rs750583121
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001697989 SCV000723659 likely benign not provided 2020-01-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002331059 SCV002636911 likely benign Cardiovascular phenotype 2020-03-06 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.
Invitae RCV002532769 SCV003281746 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-03-13 criteria provided, single submitter clinical testing

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