ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.2100C>T (p.Asp700=)

gnomAD frequency: 0.00016  dbSNP: rs372517881
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242459 SCV000303372 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000934390 SCV001080112 likely benign Niemann-Pick disease, type C1 2024-01-24 criteria provided, single submitter clinical testing

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