ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.2397C>T (p.Cys799=)

gnomAD frequency: 0.00003  dbSNP: rs769196521
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 RCV000247443 SCV000303373 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV001479165 SCV001683458 likely benign Niemann-Pick disease, type C1 2023-12-17 criteria provided, single submitter clinical testing

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