ClinVar Miner

Submissions for variant NM_206937.2(LIG4):c.1972A>G (p.Ile658Val)

gnomAD frequency: 0.00051  dbSNP: rs2232641
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000860548 SCV001000632 benign DNA ligase IV deficiency 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001112885 SCV001270597 benign Severe combined immunodeficiency due to DCLRE1C deficiency 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV000860548 SCV001270598 benign DNA ligase IV deficiency 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.

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