Submissions for variant NM_000380.4(XPA):c.766A>G (p.Met256Val)

gnomAD frequency: 0.00899  dbSNP: rs57519506

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000260012	SCV000475589	likely benign	Xeroderma pigmentosum group A	2017-04-28	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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000861170	SCV001001411	benign	not provided	2025-01-23	criteria provided, single submitter	clinical testing
GeneDx	RCV000861170	SCV002503982	likely benign	not provided	2024-11-06	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Fulgent Genetics, Fulgent Genetics	RCV000260012	SCV002809337	likely benign	Xeroderma pigmentosum group A	2022-04-23	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000260012	SCV004016274	likely benign	Xeroderma pigmentosum group A	2023-07-07	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000861170	SCV005222493	likely benign	not provided		criteria provided, single submitter	not provided
ITMI	RCV000122318	SCV000086548	not provided	not specified	2013-09-19	no assertion provided	reference population