Submissions for variant NM_000154.2(GALK1):c.-22T>C

gnomAD frequency: 0.00026  dbSNP: rs545362817

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Mendelics	RCV000990063	SCV001140837	benign	Deficiency of galactokinase	2019-05-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000990063	SCV001288096	uncertain significance	Deficiency of galactokinase	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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000990063	SCV001722626	benign	Deficiency of galactokinase	2023-09-08	criteria provided, single submitter	clinical testing
GeneDx	RCV002225778	SCV002504215	likely benign	not provided	2021-02-19	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Natera, Inc.	RCV000990063	SCV002089508	likely benign	Deficiency of galactokinase	2020-01-17	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003906124	SCV004723319	likely benign	GALK1-related disorder	2019-06-17	no assertion criteria provided	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).