ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.1352+60C>A

gnomAD frequency: 0.00793  dbSNP: rs12714224
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge RCV000256331 SCV000322830 uncertain significance Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Breakthrough Genomics, Breakthrough Genomics RCV004692882 SCV005187909 uncertain significance not provided criteria provided, single submitter not provided

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