ClinVar Miner

Submissions for variant NM_021067.5(GINS1):c.289G>A (p.Val97Ile)

gnomAD frequency: 0.35168  dbSNP: rs6076347
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001521702 SCV001731091 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001521702 SCV001892640 benign not provided 2019-10-13 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001702606 SCV001933784 benign Combined immunodeficiency due to GINS1 deficiency 2021-08-10 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003487401 SCV004233173 benign not specified 2024-01-24 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 65% of patients studied by a panel of primary immunodeficiencies. Number of patients: 62. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001521702 SCV005314994 benign not provided criteria provided, single submitter not provided

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