ClinVar Miner

Submissions for variant NM_006432.5(NPC2):c.27del (p.Leu10fs)

dbSNP: 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 not provided Niemann-Pick disease, type C2 no assertion provided literature only

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