Submissions for variant NM_006502.3(POLH):c.2028C>T (p.Ala676=)

gnomAD frequency: 0.00045  dbSNP: rs140971385

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000368635	SCV000463494	likely benign	Xeroderma pigmentosum variant type	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx	RCV001550335	SCV001770646	likely benign	not provided	2019-06-25	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002258883	SCV002536994	likely benign	Xeroderma pigmentosum	2020-12-19	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV001550335	SCV004163543	likely benign	not provided	2022-07-01	criteria provided, single submitter	clinical testing	POLH: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp	RCV001550335	SCV004279188	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing