ClinVar Miner

Submissions for variant NM_001308093.3(GATA4):c.1067C>G (p.Thr356Ser)

gnomAD frequency: 0.00003  dbSNP: rs200167770
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000549981 SCV000651995 benign Atrioventricular septal defect 4 2024-01-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001729639 SCV001977888 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001729639 SCV001979591 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001729639 SCV002035628 likely benign not provided no assertion criteria provided clinical testing

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