ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.3205A>G (p.Met1069Val)

dbSNP: rs1567946736
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000693173 SCV000821030 uncertain significance Niemann-Pick disease, type C1 2021-08-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000693173 SCV001805975 uncertain significance Niemann-Pick disease, type C1 2021-07-14 criteria provided, single submitter clinical testing

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