ClinVar Miner

Submissions for variant NM_016277.5(RAB23):c.218C>T (p.Ala73Val)

gnomAD frequency: 0.00001  dbSNP: rs556931606
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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 RCV000193841 SCV000248627 uncertain significance not specified 2015-02-16 criteria provided, single submitter clinical testing
Invitae RCV000917274 SCV001062547 likely benign Carpenter syndrome 2024-01-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001159250 SCV001320947 likely benign RAB23-related Carpenter syndrome 2018-01-13 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Genome-Nilou Lab RCV001159250 SCV001737169 likely benign RAB23-related Carpenter syndrome 2021-05-18 criteria provided, single submitter clinical testing
GeneDx RCV001567378 SCV001791047 uncertain significance not provided 2020-05-05 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001159250 SCV001453471 benign RAB23-related Carpenter syndrome 2019-11-11 no assertion criteria provided clinical testing

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