ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.2422+30C>T

gnomAD frequency: 0.12776  dbSNP: rs2075790
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244546 SCV000310832 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001711561 SCV001941191 benign not provided 2018-06-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001775736 SCV002014148 benign X-linked intellectual disability with marfanoid habitus 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001775737 SCV002014149 benign Blepharophimosis - intellectual disability syndrome, MKB type 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001775735 SCV002014150 benign FG syndrome 1 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001711561 SCV005274601 benign not provided criteria provided, single submitter not provided

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