ClinVar Miner

Submissions for variant NM_004628.5(XPC):c.2251-37C>G

dbSNP: rs2470353
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248907 SCV000310538 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001651186 SCV001867192 benign not provided 2019-01-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002244614 SCV002513997 benign Xeroderma pigmentosum, group C 2021-12-05 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316414 SCV004016278 benign Xeroderma pigmentosum group A 2023-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001651186 SCV005241617 benign not provided criteria provided, single submitter not provided

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