ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.411G>A (p.Thr137=)

gnomAD frequency: 0.00001  dbSNP: rs756405444
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729425 SCV000857086 uncertain significance not provided 2017-09-21 criteria provided, single submitter clinical testing
Invitae RCV002067094 SCV002412152 likely benign Niemann-Pick disease, type C1 2023-11-08 criteria provided, single submitter clinical testing

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