ClinVar Miner

Submissions for variant NM_001010874.5(TECRL):c.133C>T (p.Pro45Ser)

gnomAD frequency: 0.05584  dbSNP: rs61744866
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001693779 SCV001914644 benign not provided 2018-09-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002386501 SCV002691887 benign Cardiovascular phenotype 2018-12-03 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003230688 SCV003929096 likely benign not specified 2023-04-10 criteria provided, single submitter clinical testing

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