ClinVar Miner

Submissions for variant NM_001329943.3(KIAA0586):c.3920A>G (p.Asp1307Gly)

gnomAD frequency: 0.00806  dbSNP: rs3783697
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000532889 SCV000655666 benign Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001724061 SCV001949611 benign not provided 2018-08-20 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001724061 SCV005297006 benign not provided criteria provided, single submitter not provided

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