ClinVar Miner

Submissions for variant NM_003265.3(TLR3):c.889C>G (p.Leu297Val)

gnomAD frequency: 0.00165  dbSNP: rs35311343
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000647014 SCV000768800 likely benign Herpes simplex encephalitis, susceptibility to, 1 2024-01-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711201 SCV005256785 likely benign not provided criteria provided, single submitter not provided
OMIM RCV000587900 SCV000693876 risk factor Immunodeficiency 83, susceptibility to viral infections 2021-07-12 no assertion criteria provided literature only
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV001779020 SCV002014793 risk factor Multisystem inflammatory syndrome in children 2021-11-14 no assertion criteria provided research

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