ClinVar Miner

Submissions for variant NM_001329943.3(KIAA0586):c.600G>A (p.Leu200=)

gnomAD frequency: 0.00098  dbSNP: rs61738360
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001510102 SCV001717044 benign Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 2022-11-01 criteria provided, single submitter clinical testing
GeneDx RCV000907687 SCV001777762 likely benign not provided 2021-05-25 criteria provided, single submitter clinical testing

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