ClinVar Miner

Submissions for variant NM_006432.4(NPC2):c.27del (p.Leu10fs) (rs80358267)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000020645 SCV000029216 pathogenic Niemann-Pick disease type C2 2001-11-01 no assertion criteria provided literature only
GeneReviews RCV000020645 SCV000041170 pathologic Niemann-Pick disease type C2 2008-07-22 no assertion criteria provided curation Converted during submission to Pathogenic.

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