ClinVar Miner

Submissions for variant NM_000380.3(XPA):c.683G>A (p.Arg228Gln) (rs1805160)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665473 SCV000789603 uncertain significance Xeroderma pigmentosum, type 1 2017-02-07 criteria provided, single submitter clinical testing
ITMI RCV000122321 SCV000086551 not provided not specified 2013-09-19 no assertion provided reference population

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