ClinVar Miner

Submissions for variant NM_002312.3(LIG4):c.8C>T (p.Ala3Val) (rs1805389)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126630 SCV000170137 benign not specified 2013-02-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000400690 SCV000382240 likely benign Lig4 syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000284646 SCV000382241 likely benign Severe combined immunodeficiency with sensitivity to ionizing radiation 2016-06-14 criteria provided, single submitter clinical testing
OMIM RCV000008115 SCV000028320 protective Multiple myeloma, resistance to 2002-12-01 no assertion criteria provided literature only

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