ClinVar Miner

Submissions for variant NM_022437.3(ABCG8):c.1782C>T (p.Ser594=)

gnomAD frequency: 0.00382  dbSNP: rs139835626
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000327423 SCV000430538 likely benign Sitosterolemia 1 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.
Invitae RCV000966795 SCV001114149 benign not provided 2024-01-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821015 SCV002066370 benign not specified 2021-10-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002402063 SCV002710368 benign Cardiovascular phenotype 2022-07-19 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001821015 SCV004029685 likely benign not specified 2023-07-18 criteria provided, single submitter clinical testing

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