ClinVar Miner

Submissions for variant NM_023073.3(CPLANE1):c.4986A>C (p.Gln1662His) (rs547409263)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000247100 SCV000314193 benign not specified criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625257 SCV000744327 likely benign Joubert syndrome 17 2017-08-14 criteria provided, single submitter clinical testing
Invitae RCV000923734 SCV001069222 benign not provided 2019-01-30 criteria provided, single submitter clinical testing

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