ClinVar Miner

Submissions for variant NM_000039.3(APOA1):c.388AAG[1] (p.Lys131del) (rs532489785)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788861 SCV000928131 pathogenic not provided 2018-12-19 criteria provided, single submitter clinical testing
Cavalleri Lab, Royal College of Surgeons in Ireland RCV001171337 SCV001328284 uncertain significance Chronic kidney disease 2020-05-28 criteria provided, single submitter research PM4, BS1
Institute of Human Genetics, University of Leipzig Medical Center RCV001262205 SCV001439992 uncertain significance Familial visceral amyloidosis, Ostertag type 2019-01-01 criteria provided, single submitter clinical testing

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