ClinVar Miner

Submissions for variant NM_000234.3(LIG1):c.510C>A (p.Ala170=)

gnomAD frequency: 0.50510  dbSNP: rs20580
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000454851 SCV000539530 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Labcorp Genetics (formerly Invitae), Labcorp RCV001519346 SCV001728199 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000454851 SCV004101918 benign not specified 2023-11-12 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 72% of patients studied by a panel of primary immunodeficiencies. Number of patients: 69. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001519346 SCV005313292 benign not provided criteria provided, single submitter not provided

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