ClinVar Miner

Submissions for variant NM_001329943.3(KIAA0586):c.1056A>G (p.Ser352=)

gnomAD frequency: 0.00501  dbSNP: rs148006211
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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 RCV000548643 SCV000655653 benign Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001540476 SCV001758367 likely benign not provided 2020-06-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001540476 SCV005212081 likely benign not provided criteria provided, single submitter not provided

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