ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.2257G>A (p.Val753Met) (rs146874573)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000329383 SCV000341671 uncertain significance not provided 2017-11-29 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765406 SCV000896685 uncertain significance Niemann-Pick disease type C1 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000765406 SCV001197631 likely benign Niemann-Pick disease type C1 2019-12-24 criteria provided, single submitter clinical testing

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