ClinVar Miner

Submissions for variant NM_001002295.2(GATA3):c.948G>A (p.Thr316=)

gnomAD frequency: 0.00001  dbSNP: rs12572959
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000879309 SCV001022331 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501362 SCV002795273 likely benign Hypoparathyroidism, deafness, renal disease syndrome 2022-03-11 criteria provided, single submitter clinical testing

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