ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1186+10G>C (rs781336025)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
LDLR-LOVD, British Heart Foundation	RCV000238281	SCV000295267	likely benign	Familial hypercholesterolemia 1	2016-03-25	criteria provided, single submitter	literature only

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