ClinVar Miner

Submissions for variant NM_015627.3(LDLRAP1):c.459+2T>G

gnomAD frequency: 0.00001  dbSNP: rs1461905374
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
AiLife Diagnostics, AiLife Diagnostics RCV002223751 SCV002503198 likely pathogenic not provided 2021-12-27 criteria provided, single submitter clinical testing
OMIM RCV000005046 SCV000025222 pathogenic Hypercholesterolemia, familial, 4 2005-01-01 no assertion criteria provided literature only

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