ClinVar Miner

Submissions for variant NM_001329943.3(KIAA0586):c.422T>C (p.Met141Thr)

gnomAD frequency: 0.00533  dbSNP: rs61735931
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000434353 SCV000511601 likely benign not provided 2017-01-24 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV001085731 SCV000655671 benign Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000434353 SCV001828712 benign not provided 2019-01-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000434353 SCV002563201 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing KIAA0586: BP4, BS2

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