ClinVar Miner

Submissions for variant NM_001329943.3(KIAA0586):c.4461T>C (p.Ile1487=)

gnomAD frequency: 0.02142  dbSNP: rs11611
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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 RCV000536083 SCV000655669 benign Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001613370 SCV001837404 benign not provided 2018-08-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001613370 SCV005297028 benign not provided criteria provided, single submitter not provided

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