ClinVar Miner

Submissions for variant NM_001002295.2(GATA3):c.425C>A (p.Ser142Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Medizinische Genetik Mainz RCV004698924 SCV005200652 pathogenic Hypoparathyroidism, deafness, renal disease syndrome 2024-08-08 criteria provided, single submitter clinical testing ACMG Criteria: PVS1,PM2_SUP,PP4

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