ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.986-33dup

dbSNP: rs11373069
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001657255 SCV001869046 benign not provided 2019-12-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789483 SCV002032017 benign Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2021-10-25 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003394188 SCV004102100 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 96% of patients studied by a panel of primary immunodeficiencies. Number of patients: 92. Only high quality variants are reported.

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