ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.3127A>G (p.Thr1043Ala)

dbSNP: rs876661319
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM RCV000223886 SCV000267570 pathogenic Niemann-Pick disease, type C1 2015-11-01 no assertion criteria provided clinical testing

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