ClinVar Miner

Submissions for variant NM_004628.5(XPC):c.368del (p.Asn123fs)

dbSNP: rs1553607419
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669908 SCV000794708 likely pathogenic Xeroderma pigmentosum, group C 2017-10-24 criteria provided, single submitter clinical testing
Baylor Genetics RCV000669908 SCV005055911 likely pathogenic Xeroderma pigmentosum, group C 2024-01-07 criteria provided, single submitter clinical testing

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