ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.2444G>A (p.Arg815Gln)

gnomAD frequency: 0.00001  dbSNP: rs762905361
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000239397 SCV000297767 not provided FG syndrome 1 no assertion provided literature only Reported in male sibs with nonspecific intellectual disability

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