ClinVar Miner

Submissions for variant NM_001002295.2(GATA3):c.733delinsCC (p.Thr245fs)

dbSNP: rs1832698457
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197241 SCV001367878 pathogenic Hypoparathyroidism, deafness, renal disease syndrome 2019-03-22 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PM6.

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