ClinVar Miner

Submissions for variant NM_005461.5(MAFB):c.445G>A (p.Gly149Ser)

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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 RCV005026944 SCV005656933 uncertain significance Multicentric carpo-tarsal osteolysis with or without nephropathy; Duane retraction syndrome 3 with or without deafness 2024-04-03 criteria provided, single submitter clinical testing

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