ClinVar Miner

Submissions for variant NM_002578.5(PAK3):c.10G>A (p.Gly4Ser)

gnomAD frequency: 0.00016  dbSNP: rs140296303
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000499388 SCV000596207 likely benign not specified 2015-10-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314874 SCV000847355 benign Inborn genetic diseases 2018-04-04 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.
Illumina Laboratory Services, Illumina RCV001169822 SCV001332600 benign Intellectual disability, X-linked 30 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002056863 SCV002406477 benign not provided 2024-05-29 criteria provided, single submitter clinical testing

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