ClinVar Miner

Submissions for variant NM_001080522.2(CC2D2A):c.3364C>T (p.Pro1122Ser) (rs118204051)

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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 RCV000730543 SCV000858288 likely pathogenic not provided 2017-11-28 criteria provided, single submitter clinical testing
OMIM RCV000000779 SCV000020929 pathogenic Joubert syndrome 9 2008-11-01 no assertion criteria provided literature only
UW Hindbrain Malformation Research Program,University of Washington RCV000000779 SCV000256330 pathogenic Joubert syndrome 9 2015-02-23 criteria provided, single submitter research

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