ClinVar Miner

Submissions for variant NM_001002295.2(GATA3):c.925-27C>T

gnomAD frequency: 0.76775  dbSNP: rs422628
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001620491 SCV001845948 benign not provided 2018-06-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001702938 SCV001933740 benign Hypoparathyroidism, deafness, renal disease syndrome 2021-08-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001620491 SCV005323358 benign not provided criteria provided, single submitter not provided

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