ClinVar Miner

Submissions for variant NM_016816.4(OAS1):c.484G>A (p.Gly162Ser)

gnomAD frequency: 0.47874  dbSNP: rs1131454
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001513965 SCV001721681 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001513965 SCV001897132 benign not provided 2021-05-04 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 16014697)
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003488339 SCV004232971 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 87% of patients studied by a panel of primary immunodeficiencies. Number of patients: 83. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001513965 SCV005231518 benign not provided criteria provided, single submitter not provided
OMIM RCV000015022 SCV000035278 uncertain significance OAS1 polymorphism 2006-02-01 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV003974825 SCV004798875 benign OAS1-related disorder 2019-05-17 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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