ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1026C>T (p.Asp342=) (rs780563386)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000869553	SCV001010990	likely benign	Familial hypercholesterolemia	2019-12-31	criteria provided, single submitter	clinical testing

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