ClinVar Miner

Submissions for variant NM_001242.5(CD27):c.175G>A (p.Ala59Thr)

gnomAD frequency: 0.19215  dbSNP: rs25680
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001518348 SCV001727022 benign Lymphoproliferative syndrome 2 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001685395 SCV001904682 benign not provided 2018-11-10 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003399303 SCV004102459 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 25% of patients studied by a panel of primary immunodeficiencies. Number of patients: 24. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001685395 SCV005236855 benign not provided criteria provided, single submitter not provided

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