ClinVar Miner

Submissions for variant NM_016111.4(TELO2):c.32C>A (p.Ala11Asp)

gnomAD frequency: 0.00092  dbSNP: rs144863771
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000420665 SCV000510924 uncertain significance not provided 2017-01-18 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV000420665 SCV001038079 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002524711 SCV003702814 likely benign Inborn genetic diseases 2021-09-01 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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