ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.3354+27G>C

gnomAD frequency: 0.15058  dbSNP: rs5030617
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253275 SCV000310834 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001711701 SCV001939119 benign not provided 2018-06-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001775739 SCV002014151 benign X-linked intellectual disability with marfanoid habitus 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001775740 SCV002014152 benign Blepharophimosis - intellectual disability syndrome, MKB type 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001775738 SCV002014155 benign FG syndrome 1 2021-09-05 criteria provided, single submitter clinical testing

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