ClinVar Miner

Submissions for variant NM_015386.3(COG4):c.1546G>C (p.Gly516Arg)

dbSNP: rs1555575860
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000710021 SCV000840386 pathogenic Microcephalic osteodysplastic dysplasia, Saul-Wilson type 2018-11-29 no assertion criteria provided literature only
GeneReviews RCV000710021 SCV001245261 not provided Microcephalic osteodysplastic dysplasia, Saul-Wilson type no assertion provided literature only

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