ClinVar Miner

Submissions for variant NM_001174150.2(ARL13B):c.1186C>G (p.Pro396Ala)

gnomAD frequency: 0.00529  dbSNP: rs11554412
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180713 SCV000233193 likely benign not specified 2014-07-29 criteria provided, single submitter clinical testing
Invitae RCV001084233 SCV000260287 benign Joubert syndrome 8 2024-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000180713 SCV000316771 benign not specified criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000180713 SCV000593418 likely benign not specified 2016-08-08 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514568 SCV000611036 likely benign not provided 2017-07-19 criteria provided, single submitter clinical testing
GeneDx RCV000514568 SCV000978016 benign not provided 2019-06-14 criteria provided, single submitter clinical testing
Mendelics RCV000987298 SCV001136560 likely benign Joubert syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000514568 SCV001371186 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing ARL13B: BP4, BS2

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