ClinVar Miner

Submissions for variant NM_003982.4(SLC7A7):c.1430-55T>C

gnomAD frequency: 0.16163  dbSNP: rs11568422
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001538037 SCV001755034 benign Lysinuric protein intolerance 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001673153 SCV001886371 benign not provided 2018-06-23 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003487440 SCV004233680 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 28% of patients studied by a panel of primary immunodeficiencies. Number of patients: 27. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001673153 SCV005232740 benign not provided criteria provided, single submitter not provided

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