ClinVar Miner

Submissions for variant NM_001382391.1(CSPP1):c.1697+1G>T

gnomAD frequency: 0.00001  dbSNP: rs863225193
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program, University of Washington RCV000201750 SCV000256405 pathogenic Joubert syndrome 21 2015-02-23 criteria provided, single submitter research
Fulgent Genetics, Fulgent Genetics RCV000201750 SCV002810952 pathogenic Joubert syndrome 21 2022-02-22 criteria provided, single submitter clinical testing

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