ClinVar Miner

Submissions for variant NM_001918.5(DBT):c.251+19dup

dbSNP: rs201469612
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000079940 SCV000308531 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000079940 SCV000567837 benign not specified 2016-05-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001518252 SCV001726913 benign Maple syrup urine disease 2025-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001518252 SCV004050175 benign Maple syrup urine disease 2023-04-11 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003654197 SCV004564753 benign Maple syrup urine disease type 1A 2023-09-21 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000079940 SCV000111823 benign not specified 2013-10-30 no assertion criteria provided clinical testing

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