ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.52890C>T (p.Thr17630=)

gnomAD frequency: 0.00007  dbSNP: rs374228930
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000444140 SCV000518389 likely benign not specified 2016-04-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics RCV000444140 SCV000616102 benign not specified 2017-02-15 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000733818 SCV000861918 uncertain significance not provided 2018-06-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001078910 SCV001007002 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-25 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000444140 SCV002570993 likely benign not specified 2022-07-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002429376 SCV002741697 likely benign Cardiovascular phenotype 2022-04-21 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.

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