ClinVar Miner

Submissions for variant NM_017721.5(CC2D1A):c.1739C>T (p.Thr580Ile)

gnomAD frequency: 0.00476  dbSNP: rs202057391
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000116590 SCV000150553 benign not specified 2016-10-28 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224917 SCV000281291 likely benign not provided 2016-01-07 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Ambry Genetics RCV002313862 SCV000848150 likely benign Inborn genetic diseases 2021-10-01 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.
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000785141 SCV000923703 uncertain significance Intellectual disability, autosomal recessive 3 2019-01-01 criteria provided, single submitter clinical testing
Invitae RCV000224917 SCV001022782 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000224917 SCV001151733 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing CC2D1A: BS2
PreventionGenetics, part of Exact Sciences RCV003915140 SCV004731538 benign CC2D1A-related disorder 2021-07-06 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000491268 SCV000299209 pathogenic Smith-Magenis Syndrome-like 2016-08-15 flagged submission research

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