ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.1974+15C>T

gnomAD frequency: 0.00001  dbSNP: rs186876895
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003773578 SCV002329811 benign FG syndrome 2024-01-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494023 SCV002798361 likely benign X-linked intellectual disability with marfanoid habitus; FG syndrome 1; Cholestasis-pigmentary retinopathy-cleft palate syndrome; Blepharophimosis - intellectual disability syndrome, MKB type 2021-08-10 criteria provided, single submitter clinical testing

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