ClinVar Miner

Submissions for variant NM_000482.4(APOA4):c.1140G>T (p.Gln380His)

gnomAD frequency: 0.05327  dbSNP: rs5110
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001723580 SCV001950638 benign not provided 2021-05-04 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 9714133, 20117098, 1349197)
Labcorp Genetics (formerly Invitae), Labcorp RCV001723580 SCV002493482 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001723580 SCV005231740 benign not provided criteria provided, single submitter not provided
OMIM RCV000019494 SCV000039791 pathogenic APOLIPOPROTEIN A-IV POLYMORPHISM, APOA4*1/APOA4*2 1992-05-01 no assertion criteria provided literature only

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