ClinVar Miner

Submissions for variant NM_005461.5(MAFB):c.847G>C (p.Glu283Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005026940 SCV005656928 uncertain significance Multicentric carpo-tarsal osteolysis with or without nephropathy; Duane retraction syndrome 3 with or without deafness 2024-02-14 criteria provided, single submitter clinical testing

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