ClinVar Miner

Submissions for variant NM_003383.5(VLDLR):c.540C>T (p.Ser180=)

gnomAD frequency: 0.00009  dbSNP: rs367872112
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000375905 SCV000479338 uncertain significance Congenital cerebellar hypoplasia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV002058793 SCV002484110 likely benign not provided 2024-01-16 criteria provided, single submitter clinical testing

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