ClinVar Miner

Submissions for variant NM_000039.3(APOA1):c.43+41T>C

gnomAD frequency: 0.60126  dbSNP: rs5070
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001613628 SCV001834402 benign not provided 2018-08-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260218 SCV002539397 benign Familial visceral amyloidosis, Ostertag type 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260219 SCV002539398 benign Hypoalphalipoproteinemia, primary, 2 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260220 SCV002539399 benign Hypoalphalipoproteinemia, primary, 2, intermediate 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001613628 SCV005232216 benign not provided criteria provided, single submitter not provided

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