ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.956-7C>T (rs537484682)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001078687 SCV001086052 likely benign Niemann-Pick disease type C1 2019-12-31 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675578 SCV000801269 likely benign not provided 2017-06-15 no assertion criteria provided clinical testing

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