Submissions for variant NM_006416.5(SLC35A1):c.887-14T>C

gnomAD frequency: 0.10768  dbSNP: rs56136150

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081414	SCV000113345	benign	not specified	2012-10-09	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000298959	SCV000465717	likely benign	Congenital disorder of glycosylation	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000334794	SCV000484278	likely benign	Pontoneocerebellar hypoplasia	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000081414	SCV000517694	benign	not specified	2015-12-02	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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000081414	SCV000540365	benign	not specified	2016-03-29	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Labcorp Genetics (formerly Invitae), Labcorp	RCV001517748	SCV001726313	benign	SLC35A1-congenital disorder of glycosylation	2024-01-29	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004704842	SCV005224480	likely benign	not provided		criteria provided, single submitter	not provided