ClinVar Miner

Submissions for variant NM_014804.3(KIAA0753):c.1397T>C (p.Leu466Pro)

gnomAD frequency: 0.64436  dbSNP: rs2289642
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001694803 SCV001910792 benign not provided 2020-12-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730964 SCV001980988 benign Joubert syndrome 38 2021-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730963 SCV001980989 benign Orofaciodigital syndrome XV 2021-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730965 SCV001980991 benign Short-rib thoracic dysplasia 21 without polydactyly 2021-08-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001694803 SCV002409226 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001694803 SCV005255398 benign not provided criteria provided, single submitter not provided

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