Submissions for variant NM_006502.3(POLH):c.1783A>G (p.Met595Val)

gnomAD frequency: 0.01768  dbSNP: rs9333555

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000247560	SCV000311508	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000677310	SCV000463489	benign	Xeroderma pigmentosum variant type	2018-03-06	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.
SIB Swiss Institute of Bioinformatics	RCV000677310	SCV000803449	likely benign	Xeroderma pigmentosum variant type	2018-05-31	criteria provided, single submitter	curation	This variant is interpreted as a Likely Benign, for Xeroderma pigmentosum, variant type, in Autosomal Recessive manner. The following ACMG Tag(s) were applied: BP4 => Multiple lines of computational evidence suggest no impact on gene or gene product (conservation, evolutionary, splicing impact, etc.). BS1 => Allele frequency is greater than expected for disorder.
GeneDx	RCV001668521	SCV001884148	benign	not provided	2019-12-16	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 16823845, 27153395, 19477635)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000247560	SCV002050970	likely benign	not specified	2021-12-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001668521	SCV003354457	benign	not provided	2025-01-23	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000677310	SCV004017095	benign	Xeroderma pigmentosum variant type	2023-07-07	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001668521	SCV005223864	likely benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000247560	SCV002035149	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000247560	SCV002035695	benign	not specified		no assertion criteria provided	clinical testing