ClinVar Miner

Submissions for variant NM_032977.3(CASP10):c.1216A>C (p.Ile406Leu) (rs80358239)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000008211 SCV000028418 uncertain significance Autoimmune lymphoproliferative syndrome, type 2A 2006-04-01 no assertion criteria provided literature only
GeneReviews RCV000008211 SCV000041544 pathologic Autoimmune lymphoproliferative syndrome, type 2A 2011-09-08 no assertion criteria provided curation Converted during submission to Pathogenic.

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