ClinVar Miner

Submissions for variant NM_005461.5(MAFB):c.440del (p.Gly147fs) (rs879255276)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Engle Laboratory,Boston Children's Hospital RCV000240729 SCV000265995 pathogenic Duane syndrome type 1; Duane retraction syndrome 2 2016-03-01 criteria provided, single submitter research
OMIM RCV000235078 SCV000292426 pathogenic Duane syndrome type 3 2016-07-18 no assertion criteria provided literature only

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