ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.546C>T (p.Asp182=)

gnomAD frequency: 0.00004  dbSNP: rs572499557
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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) RCV000595036 SCV000707987 uncertain significance not provided 2017-05-02 criteria provided, single submitter clinical testing
Invitae RCV001496209 SCV001700903 likely benign Niemann-Pick disease, type C1 2023-12-30 criteria provided, single submitter clinical testing

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