ClinVar Miner

Submissions for variant NM_001918.5(DBT):c.1210-8A>T

gnomAD frequency: 0.00023  dbSNP: rs535837017
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704808 SCV000730265 likely benign not provided 2019-07-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000910455 SCV001055322 benign Maple syrup urine disease 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000910455 SCV001253779 likely benign Maple syrup urine disease 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 RCV000910455 SCV004050146 benign Maple syrup urine disease 2023-04-11 criteria provided, single submitter clinical testing

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