ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.1947+7_1947+8insCGGGG

dbSNP: rs1555634618
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001080625 SCV000770851 likely benign Niemann-Pick disease, type C1 2025-02-03 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000727853 SCV000855319 uncertain significance not provided 2017-10-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000727853 SCV004140861 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing NPC1: BP4, BS2

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