ClinVar Miner

Submissions for variant NM_001329943.3(KIAA0586):c.1097A>T (p.Glu366Val)

gnomAD frequency: 0.00694  dbSNP: rs59248588
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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 RCV000878464 SCV001021376 benign Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001585852 SCV001820221 likely benign not provided 2021-06-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001585852 SCV005212082 likely benign not provided criteria provided, single submitter not provided

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