ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.1275G>A (p.Ser425=)

gnomAD frequency: 0.00004  dbSNP: rs190032589
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671940 SCV000796982 likely benign Niemann-Pick disease, type C1 2018-01-05 criteria provided, single submitter clinical testing
Invitae RCV000671940 SCV001625092 likely benign Niemann-Pick disease, type C1 2024-01-24 criteria provided, single submitter clinical testing

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