ClinVar Miner

Submissions for variant NM_001329943.3(KIAA0586):c.257T>C (p.Met86Thr)

gnomAD frequency: 0.00689  dbSNP: rs74055693
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000878463 SCV001021375 benign Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 2024-01-30 criteria provided, single submitter clinical testing
Mendelics RCV000989233 SCV001139468 benign Joubert syndrome 23 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV001638015 SCV001849423 benign not provided 2019-05-17 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26026149)
CeGaT Center for Human Genetics Tuebingen RCV001638015 SCV004134160 benign not provided 2023-01-01 criteria provided, single submitter clinical testing KIAA0586: PP3, BS1, BS2

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