ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.1869C>T (p.Thr623=)

gnomAD frequency: 0.00003  dbSNP: rs1359876392
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000928616 SCV001074229 likely benign Niemann-Pick disease, type C1 2023-11-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003413730 SCV004140862 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing NPC1: BP4, BP7
Natera, Inc. RCV000928616 SCV001463707 likely benign Niemann-Pick disease, type C1 2020-05-04 no assertion criteria provided clinical testing

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