ClinVar Miner

Submissions for variant NM_001308093.3(GATA4):c.1150-107A>G

gnomAD frequency: 0.39169  dbSNP: rs745379
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001643224 SCV001855808 benign not provided 2019-03-31 criteria provided, single submitter clinical testing
H3Africa Consortium RCV001358415 SCV002014634 benign not specified 2020-10-28 criteria provided, single submitter research While the frequency of the alternate allele in gnoMAD v2.0.2 is 0.229, its frequency in African populations is >5%. This suggests that previous classifications of this variant as pathogenic are in error.
Central Research Laboratory, Sri Devaraj Urs Academy of Higher Education and Research RCV000498104 SCV000590805 pathogenic Congenital heart disease 2017-01-07 no assertion criteria provided clinical testing
Reproductive Health Research and Development, BGI Genomics RCV000498104 SCV001142385 benign Congenital heart disease 2020-01-06 no assertion criteria provided curation NG_008177.2(NM_002052.4):c.1147-107A>G in the gene GATA4 has an allele frequency of 0.510 in European (non-Finnish) subpopulation in the gnomAD database. 2668 homozygous occurrences are observed in the gnomAD database. This evidence suggests the variant to be classified as benign. ACMG/AMP criteria applied: BA1; BS2.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001358415 SCV001554140 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001358415 SCV001808984 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001358415 SCV001954593 benign not specified no assertion criteria provided clinical testing

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