ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.2547+2T>G

dbSNP: rs2147287476
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II RCV001450044 SCV001653667 pathogenic Hypercholesterolemia, familial, 1 2021-05-24 criteria provided, single submitter clinical testing

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