ClinVar Miner

Submissions for variant NM_014804.3(KIAA0753):c.69C>T (p.Ser23=)

gnomAD frequency: 0.38122  dbSNP: rs2301873
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001541746 SCV001759779 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730837 SCV001981002 benign Joubert syndrome 38 2021-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730836 SCV001981003 benign Orofaciodigital syndrome XV 2021-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730838 SCV001981004 benign Short-rib thoracic dysplasia 21 without polydactyly 2021-08-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001541746 SCV002433787 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001541746 SCV005255414 benign not provided criteria provided, single submitter not provided

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