ClinVar Miner

Submissions for variant NM_006432.5(NPC2):c.414C>A (p.Leu138=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001278149 SCV001640652 likely benign Niemann-Pick disease, type C2 2019-08-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278149 SCV001465145 uncertain significance Niemann-Pick disease, type C2 2020-04-18 no assertion criteria provided clinical testing

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