ClinVar Miner

Submissions for variant NM_005461.5(MAFB):c.803del (p.Asn268fs) (rs879255275)

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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 RCV000240679 SCV000265997 pathogenic Duane syndrome type 1; Duane syndrome type 2 2016-03-01 criteria provided, single submitter research
OMIM RCV000235061 SCV000292425 pathogenic Duane retraction syndrome 3 with or without deafness 2016-07-18 no assertion criteria provided literature only

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