ClinVar Miner

Submissions for variant NM_001002295.2(GATA3):c.431del (p.Gly144fs)

dbSNP: rs1588377948
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva, University Hospital of Geneva RCV000018106 SCV001739302 pathogenic Hypoparathyroidism, deafness, renal disease syndrome 2019-09-04 criteria provided, single submitter clinical testing
OMIM RCV000018106 SCV000038385 pathogenic Hypoparathyroidism, deafness, renal disease syndrome 2007-04-01 no assertion criteria provided literature only

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