ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.*309_*315del

gnomAD frequency: 0.00648  dbSNP: rs145236115
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000337455 SCV000407839 uncertain significance Niemann-Pick disease, type C 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003311758 SCV004010590 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing NPC1: BS2

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