ClinVar Miner

Submissions for variant NM_004628.5(XPC):c.749A>G (p.Asp250Gly)

gnomAD frequency: 0.00040  dbSNP: rs201247727
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002249203 SCV002517463 likely pathogenic Xeroderma pigmentosum, group C 2022-05-04 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002258399 SCV002537521 uncertain significance Xeroderma pigmentosum 2021-05-18 criteria provided, single submitter curation

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