ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.981C>T (p.His327=)

gnomAD frequency: 0.00001  dbSNP: rs1060499933
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001180450 SCV001345383 likely benign Familial hypercholesterolemia 2019-06-18 criteria provided, single submitter clinical testing
Invitae RCV001180450 SCV001597603 likely benign Familial hypercholesterolemia 2022-10-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001180450 SCV001453896 uncertain significance Familial hypercholesterolemia 2020-03-11 no assertion criteria provided clinical testing

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