ClinVar Miner

Submissions for variant NM_014804.3(KIAA0753):c.*21A>G

gnomAD frequency: 0.64487  dbSNP: rs3744720
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001673923 SCV001883384 benign not provided 2021-05-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730937 SCV001980975 benign Joubert syndrome 38 2021-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730936 SCV001980976 benign Orofaciodigital syndrome XV 2021-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730938 SCV001980977 benign Short-rib thoracic dysplasia 21 without polydactyly 2021-08-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001673923 SCV005255378 benign not provided criteria provided, single submitter not provided

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