ClinVar Miner

Submissions for variant NM_001039469.3(MARK2):c.1120del (p.Thr374fs)

dbSNP: rs1554985733
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV000660627 SCV000782747 uncertain significance not provided 2017-11-22 criteria provided, single submitter clinical testing
Department of Medical Genetics, Capital Institute of Pediatrics RCV004588086 SCV005081705 pathogenic Autism spectrum disorder 2024-07-03 no assertion criteria provided research PVS1+PM2_Supporting+PS2

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