ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.1608G>A (p.Thr536=)

gnomAD frequency: 0.00004  dbSNP: rs372770463
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000908446 SCV001053211 likely benign Niemann-Pick disease, type C1 2023-10-23 criteria provided, single submitter clinical testing

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