ClinVar Miner

Submissions for variant NM_004628.5(XPC):c.26G>T (p.Gly9Val)

gnomAD frequency: 0.00003  dbSNP: rs376802950
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001508140 SCV001714092 uncertain significance not provided 2020-11-25 criteria provided, single submitter clinical testing
Baylor Genetics RCV001788489 SCV002030106 uncertain significance Xeroderma pigmentosum, group C 2021-05-31 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Fulgent Genetics, Fulgent Genetics RCV001788489 SCV005662738 uncertain significance Xeroderma pigmentosum, group C 2024-04-30 criteria provided, single submitter clinical testing

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