ClinVar Miner

Submissions for variant NM_000032.5(ALAS2):c.1702_1705AGTG[1] (p.Glu569fs) (rs387906472)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000011228 SCV000031455 pathogenic Protoporphyria, erythropoietic, X-linked 2013-04-01 no assertion criteria provided literature only
GeneReviews RCV000011228 SCV000057777 pathologic Protoporphyria, erythropoietic, X-linked 2013-02-14 no assertion criteria provided curation Converted during submission to Pathogenic.

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