ClinVar Miner

Submissions for variant NM_015202.4(KATNIP):c.2674C>T (p.Gln892Ter) (rs864309712)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000203288 SCV000257453 likely pathogenic Joubert syndrome 2015-01-01 criteria provided, single submitter research
OMIM RCV000207324 SCV000262618 pathogenic Joubert syndrome 26 2018-02-08 no assertion criteria provided literature only

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