ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.5185C>A (p.His1729Asn)

dbSNP: rs387907362
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000043501 SCV000067334 pathogenic Blepharophimosis - intellectual disability syndrome, MKB type 2013-03-07 no assertion criteria provided literature only
GeneReviews RCV001580268 SCV000297772 not provided FG syndrome 1 no assertion provided literature only Reported in a male with X-linked Ohdo syndrome

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