ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.1170G>A (p.Leu390=)

gnomAD frequency: 0.00018  dbSNP: rs369109734
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246074 SCV000303367 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000934391 SCV001080113 likely benign Niemann-Pick disease, type C1 2024-01-24 criteria provided, single submitter clinical testing

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