ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.63+15del

dbSNP: rs11301517
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001522263 SCV001731777 benign Vici syndrome 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001522263 SCV001876058 benign Vici syndrome 2021-07-30 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003487402 SCV004232988 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 100% of patients studied by a panel of primary immunodeficiencies. Number of patients: 95. Only high quality variants are reported.

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