Submissions for variant NM_012203.2(GRHPR):c.16C>T (p.Leu6Phe)

gnomAD frequency: 0.00088  dbSNP: rs147185003

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000282740	SCV000480129	benign	Primary hyperoxaluria, type II	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae	RCV000912666	SCV001057781	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000282740	SCV001737258	benign	Primary hyperoxaluria, type II	2021-05-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000912666	SCV001794765	likely benign	not provided	2020-09-17	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003912578	SCV004735822	benign	GRHPR-related condition	2019-12-31	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc.	RCV000282740	SCV001458618	benign	Primary hyperoxaluria, type II	2019-10-28	no assertion criteria provided	clinical testing