ClinVar Miner

Submissions for variant NM_031229.4(RBCK1):c.22+33C>T

gnomAD frequency: 0.44804  dbSNP: rs3746792
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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 RCV001544390 SCV001763419 benign Polyglucosan body myopathy type 1 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001619969 SCV001846624 benign not provided 2021-05-14 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003394128 SCV004102079 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 54% of patients studied by a panel of primary immunodeficiencies. Number of patients: 52. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001619969 SCV005313516 benign not provided criteria provided, single submitter not provided

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