Submissions for variant NM_004628.5(XPC):c.1000C>T (p.Pro334Ser)

dbSNP: rs200338014

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000923513	SCV001068993	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001149245	SCV001310189	likely benign	Xeroderma pigmentosum, group C	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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Genome-Nilou Lab	RCV001149245	SCV002514014	benign	Xeroderma pigmentosum, group C	2021-12-05	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002257450	SCV002537468	likely benign	Xeroderma pigmentosum	2021-09-15	criteria provided, single submitter	curation
Fulgent Genetics, Fulgent Genetics	RCV001149245	SCV002803069	likely benign	Xeroderma pigmentosum, group C	2021-07-26	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000923513	SCV004149241	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	XPC: PM5, BP4, BS2
ITMI	RCV000122345	SCV000086575	not provided	not specified	2013-09-19	no assertion provided	reference population