ClinVar Miner

Submissions for variant NM_014804.3(KIAA0753):c.1330G>A (p.Asp444Asn)

gnomAD frequency: 0.49475  dbSNP: rs2289643
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001688849 SCV001915508 benign not provided 2020-09-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730969 SCV001980992 benign Joubert syndrome 38 2021-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730968 SCV001980993 benign Orofaciodigital syndrome XV 2021-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730970 SCV001980994 benign Short-rib thoracic dysplasia 21 without polydactyly 2021-08-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001688849 SCV002408556 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001688849 SCV005255402 benign not provided criteria provided, single submitter not provided

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