ClinVar Miner

Submissions for variant NM_031229.4(RBCK1):c.261+15G>T

gnomAD frequency: 0.14404  dbSNP: rs11698154
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Total submissions: 5
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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 RCV000454847 SCV000540160 benign not specified 2016-03-29 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 RCV001522419 SCV001731960 benign Polyglucosan body myopathy type 1 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001653810 SCV001864065 benign not provided 2021-05-14 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000454847 SCV004102451 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 26% of patients studied by a panel of primary immunodeficiencies. Number of patients: 25. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001653810 SCV005313520 benign not provided criteria provided, single submitter not provided

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