ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.3432C>G (p.Leu1144=)

gnomAD frequency: 0.00001  dbSNP: rs191526202
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000597552 SCV000703713 uncertain significance not provided 2016-11-14 criteria provided, single submitter clinical testing
Invitae RCV002062029 SCV002380341 likely benign Niemann-Pick disease, type C1 2023-01-30 criteria provided, single submitter clinical testing

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