ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.2849+14C>T

gnomAD frequency: 0.00003  dbSNP: rs398124196
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081259 SCV000113167 uncertain significance not provided 2012-07-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483145 SCV002790750 uncertain significance X-linked intellectual disability with marfanoid habitus; FG syndrome 1; Cholestasis-pigmentary retinopathy-cleft palate syndrome; Blepharophimosis - intellectual disability syndrome, MKB type 2022-01-09 criteria provided, single submitter clinical testing
Invitae RCV003595860 SCV003274246 benign FG syndrome 2023-11-11 criteria provided, single submitter clinical testing

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