ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.477C>T (p.Thr159=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003863181 SCV004665462 likely benign Familial hypercholesterolemia 2023-06-02 criteria provided, single submitter clinical testing

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