Submissions for variant NM_052859.4(RFT1):c.826+7T>C

gnomAD frequency: 0.00103  dbSNP: rs192264403

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000723498	SCV000518812	likely benign	not provided	2018-06-01	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 23806237)
Eurofins Ntd Llc (ga)	RCV000723498	SCV000700493	uncertain significance	not provided	2016-12-02	criteria provided, single submitter	clinical testing
Invitae	RCV001080596	SCV001019601	likely benign	RFT1-congenital disorder of glycosylation	2024-02-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001080596	SCV001308137	uncertain significance	RFT1-congenital disorder of glycosylation	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Revvity Omics, Revvity	RCV001080596	SCV003816120	uncertain significance	RFT1-congenital disorder of glycosylation	2021-03-04	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003970141	SCV004795370	likely benign	RFT1-related condition	2019-07-16	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).