ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.2687A>G (p.His896Arg)

gnomAD frequency: 0.00001  dbSNP: rs863225135
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program,University of Washington RCV000201566 SCV000256257 pathogenic Joubert syndrome 3 2015-02-23 criteria provided, single submitter research
CeGaT Center for Human Genetics Tuebingen RCV001091216 SCV001247114 pathogenic not provided 2017-07-01 criteria provided, single submitter clinical testing
Invitae RCV001240194 SCV001413119 pathogenic Joubert syndrome 2021-09-24 criteria provided, single submitter clinical testing

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