ClinVar Miner

Submissions for variant NM_000081.4(LYST):c.7229+50CTTTT[7]

dbSNP: rs71174459
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986570 SCV001135590 benign Chédiak-Higashi syndrome 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV001615091 SCV001839390 benign not provided 2019-08-13 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003396569 SCV004102231 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 44% of patients studied by a panel of primary immunodeficiencies. Number of patients: 42. Only high quality variants are reported.

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