ClinVar Miner

Submissions for variant NM_001329943.3(KIAA0586):c.4560G>A (p.Pro1520=)

gnomAD frequency: 0.01255  dbSNP: rs45568037
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000550820 SCV000655670 benign Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001672866 SCV001884892 benign not provided 2019-10-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001672866 SCV005297083 benign not provided criteria provided, single submitter not provided
CeGaT Center for Human Genetics Tuebingen RCV001672866 SCV005330171 benign not provided 2024-08-01 criteria provided, single submitter clinical testing KIAA0586: BP4, BS1, BS2

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