ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.1947+6dup

dbSNP: rs1555634619
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174228 SCV000225494 benign not specified 2015-02-17 criteria provided, single submitter clinical testing
Invitae RCV002054059 SCV002395636 likely benign Niemann-Pick disease, type C1 2022-07-12 criteria provided, single submitter clinical testing

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