ClinVar Miner

Submissions for variant NM_000483.5(APOC2):c.274dup (p.Gln92fs)

dbSNP: rs756916028
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV000002686 SCV005648370 likely pathogenic Familial apolipoprotein C-II deficiency 2024-04-01 criteria provided, single submitter clinical testing
OMIM RCV000002685 SCV000022843 pathogenic APOLIPOPROTEIN C-II (ST. MICHAEL) 1987-12-01 no assertion criteria provided literature only
OMIM RCV000002686 SCV000022844 pathogenic Familial apolipoprotein C-II deficiency 1987-12-01 no assertion criteria provided literature only

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