ClinVar Miner

Submissions for variant NM_020686.6(ABAT):c.603+3G>A

gnomAD frequency: 0.00925  dbSNP: rs41312254
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224546 SCV000280948 likely benign not provided 2015-12-21 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Illumina Laboratory Services, Illumina RCV000324489 SCV000399509 benign Gamma-aminobutyric acid transaminase deficiency 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000324489 SCV000632418 benign Gamma-aminobutyric acid transaminase deficiency 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000224546 SCV002497880 benign not provided 2023-07-01 criteria provided, single submitter clinical testing ABAT: BP4, BS1, BS2
Mayo Clinic Laboratories, Mayo Clinic RCV000224546 SCV000802209 likely benign not provided 2016-02-29 no assertion criteria provided clinical testing

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