Submissions for variant NM_001918.5(DBT):c.1210-10del

dbSNP: rs398123658

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000506498	SCV000111811	benign	not specified	2013-08-25	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV003654413	SCV000603289	benign	Maple syrup urine disease type 1A	2023-11-28	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000625322	SCV000744935	benign	Maple syrup urine disease	2016-02-26	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000625322	SCV001721348	benign	Maple syrup urine disease	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001662505	SCV001874977	benign	not provided	2019-09-13	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000625322	SCV004050149	benign	Maple syrup urine disease	2023-04-11	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000625322	SCV001460677	benign	Maple syrup urine disease	2020-09-16	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001662505	SCV001917158	likely benign	not provided		no assertion criteria provided	clinical testing