ClinVar Miner

Submissions for variant NM_014804.3(KIAA0753):c.2687A>G (p.Gln896Arg)

gnomAD frequency: 0.64459  dbSNP: rs1443417
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001638406 SCV001850016 benign not provided 2018-12-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730881 SCV001980978 benign Joubert syndrome 38 2021-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730880 SCV001980980 benign Orofaciodigital syndrome XV 2021-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730882 SCV001980981 benign Short-rib thoracic dysplasia 21 without polydactyly 2021-08-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001638406 SCV002344973 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001638406 SCV005255384 benign not provided criteria provided, single submitter not provided

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