ClinVar Miner

Submissions for variant NM_014804.3(KIAA0753):c.507T>C (p.Ser169=)

dbSNP: rs2072149
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001597787 SCV001831298 benign not provided 2019-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730858 SCV001980998 benign Joubert syndrome 38 2021-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730857 SCV001980999 benign Orofaciodigital syndrome XV 2021-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730859 SCV001981000 benign Short-rib thoracic dysplasia 21 without polydactyly 2021-08-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001597787 SCV002402534 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001597787 SCV005255411 benign not provided criteria provided, single submitter not provided

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