ClinVar Miner

Submissions for variant NM_001002295.2(GATA3):c.352_353del (p.Ser118fs)

dbSNP: rs2131488650
Minimum review status: Collection method:
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital RCV001823288 SCV001763637 pathogenic Hypoparathyroidism, deafness, renal disease syndrome no assertion criteria provided case-control

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