ClinVar Miner

Submissions for variant NM_031229.4(RBCK1):c.918-61A>G

gnomAD frequency: 0.72369  dbSNP: rs2057251
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001544393 SCV001763422 benign Polyglucosan body myopathy type 1 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001647408 SCV001861596 benign not provided 2021-05-14 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003394129 SCV004101961 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 67% of patients studied by a panel of primary immunodeficiencies. Number of patients: 64. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001647408 SCV005313530 benign not provided criteria provided, single submitter not provided

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