ClinVar Miner

Submissions for variant NM_005247.4(FGF3):c.196G>T (p.Gly66Cys)

dbSNP: rs121917705
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 RCV000014852 SCV000035107 pathogenic Deafness with labyrinthine aplasia, microtia, and microdontia 2009-01-01 no assertion criteria provided literature only
GeneReviews RCV000014852 SCV000054596 not provided Deafness with labyrinthine aplasia, microtia, and microdontia no assertion provided literature only

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