ClinVar Miner

Submissions for variant NM_080473.5(GATA5):c.852G>A (p.Lys284=)

dbSNP: rs6587239
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001655803 SCV001862433 benign not provided 2018-09-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001702116 SCV001933744 benign Congenital heart defects, multiple types, 5 2021-08-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001655803 SCV002408382 benign not provided 2025-02-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001655803 SCV005308916 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528300 SCV001739817 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001528300 SCV001952742 benign not specified no assertion criteria provided clinical testing

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