ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.180+8C>T (rs778096289)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000731159 SCV000858937 uncertain significance not provided 2017-12-26 criteria provided, single submitter clinical testing
Invitae RCV000731159 SCV001043602 likely benign not provided 2018-10-08 criteria provided, single submitter clinical testing

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