ClinVar Miner

Submissions for variant NM_006432.4(NPC2):c.-89G>A

gnomAD frequency: 0.00001  dbSNP: rs574247323
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000351037 SCV000388525 uncertain significance Niemann-Pick disease, type C 2016-06-14 criteria provided, single submitter clinical testing

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