ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.6267+166G>A

gnomAD frequency: 0.00002  dbSNP: rs1247198443
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000626124 SCV000746753 uncertain significance Blepharophimosis - intellectual disability syndrome, MKB type 2017-12-18 criteria provided, single submitter clinical testing

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