ClinVar Miner

Submissions for variant NM_006432.4(NPC2):c.352G>T (p.Glu118Ter) (rs80358266)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000009001 SCV000797205 pathogenic Niemann-Pick disease type C2 2018-01-16 criteria provided, single submitter clinical testing
OMIM RCV000009001 SCV000029215 pathogenic Niemann-Pick disease type C2 2001-11-01 no assertion criteria provided literature only
GeneReviews RCV000009001 SCV000041173 pathologic Niemann-Pick disease type C2 2008-07-22 no assertion criteria provided curation Converted during submission to Pathogenic.

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