ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1705+209C>T

gnomAD frequency: 0.21143  dbSNP: rs7248981
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001527131 SCV001738019 benign Hypercholesterolemia, familial, 1 2021-06-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004717812 SCV005312105 benign not provided criteria provided, single submitter not provided

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