ClinVar Miner

Submissions for variant NM_017721.5(CC2D1A):c.980C>T (p.Ser327Leu)

gnomAD frequency: 0.00665  dbSNP: rs200121704
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000116596 SCV000150559 benign not specified 2015-11-17 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000432586 SCV000511856 likely benign not provided 2016-11-15 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Ambry Genetics RCV002313864 SCV000847693 benign Inborn genetic diseases 2016-05-24 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.
Invitae RCV000432586 SCV001102265 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490789 SCV002799473 benign Intellectual disability, autosomal recessive 3 2021-07-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003964977 SCV004793432 benign CC2D1A-related disorder 2019-05-21 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).

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