Submissions for variant NM_203486.3(DLL3):c.1307G>A (p.Arg436His)

gnomAD frequency: 0.00317  dbSNP: rs199831437

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000247449	SCV000312762	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000247449	SCV000709211	benign	not specified	2017-06-15	criteria provided, single submitter	clinical testing
GeneDx	RCV000247449	SCV000717278	likely benign	not specified	2017-03-22	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001285964	SCV001472477	likely benign	Spondylocostal dysostosis 1, autosomal recessive	2021-06-11	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001521061	SCV001730315	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001521061	SCV005208343	likely benign	not provided		criteria provided, single submitter	not provided