ClinVar Miner

Submissions for variant NM_001329943.3(KIAA0586):c.4519G>A (p.Ala1507Thr)

gnomAD frequency: 0.00196  dbSNP: rs140026883
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001087173 SCV001091436 likely benign Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 2024-01-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000945424 SCV001149222 uncertain significance not provided 2017-01-01 criteria provided, single submitter clinical testing
GeneDx RCV000945424 SCV001813594 likely benign not provided 2022-08-04 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000945424 SCV002034280 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000945424 SCV002038221 likely benign not provided no assertion criteria provided clinical testing

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