Submissions for variant NM_173560.4(RFX6):c.2399G>C (p.Gly800Ala)

gnomAD frequency: 0.00225  dbSNP: rs138343620

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Personalized Diabetes Medicine Program, University of Maryland School of Medicine	RCV001174497	SCV001337636	likely benign	Monogenic diabetes	2018-06-29	criteria provided, single submitter	research	ACMG criteria: BP4 (5 predictors + REVEL score 0.148; (3 predictors for PP3), BS2 (1 homozygotes in gnomAD; 18 cases and 21 controls in type2diabetesgenetics.org), not using BS1 (1% in 1000G African population but 0.7% in gnomAD African population) = likely benign
Labcorp Genetics (formerly Invitae), Labcorp	RCV001579507	SCV002389935	benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV003117803	SCV003799924	likely benign	Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome	2023-11-29	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001579507	SCV005225191	likely benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001579507	SCV001970907	uncertain significance	not provided		no assertion criteria provided	clinical testing