ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.272del (p.Gly91fs)

dbSNP: rs1568592055
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University RCV000761444 SCV000891527 pathogenic Hypercholesterolemia, familial, 1 2017-12-30 no assertion criteria provided curation

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