ClinVar Miner

Submissions for variant NM_000107.3(DDB2):c.985C>T (p.His329Tyr)

dbSNP: rs1591001619
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV001808103 SCV002058575 uncertain significance Xeroderma pigmentosum, group E 2022-01-03 criteria provided, single submitter clinical testing The variant not observed in the gnomAD v2.1.1 dataset (PM2_M). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

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