ClinVar Miner

Submissions for variant NM_006502.2(POLH):c.490G>T (p.Glu164Ter) (rs767433001)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000251879 SCV000320714 pathogenic Xeroderma pigmentosum, variant type 2016-09-26 no assertion criteria provided literature only
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000251879 SCV000267456 likely pathogenic Xeroderma pigmentosum, variant type 2016-03-18 criteria provided, single submitter reference population

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