ClinVar Miner

Submissions for variant NM_014804.3(KIAA0753):c.1125A>T (p.Glu375Asp)

gnomAD frequency: 0.32226  dbSNP: rs9889363
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001658499 SCV001871916 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730919 SCV001980995 benign Joubert syndrome 38 2021-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730918 SCV001980996 benign Orofaciodigital syndrome XV 2021-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730920 SCV001980997 benign Short-rib thoracic dysplasia 21 without polydactyly 2021-08-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001658499 SCV002384623 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001658499 SCV005255404 benign not provided criteria provided, single submitter not provided

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