ClinVar Miner

Submissions for variant NM_001369369.1(FOXN1):c.830+19A>G

gnomAD frequency: 0.43360  dbSNP: rs548973
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000440280 SCV000516348 benign not specified 2015-10-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001518291 SCV001726959 benign T-cell immunodeficiency, congenital alopecia, and nail dystrophy 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001518291 SCV001933587 benign T-cell immunodeficiency, congenital alopecia, and nail dystrophy 2021-08-10 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000440280 SCV004233158 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 66% of patients studied by a panel of primary immunodeficiencies. Number of patients: 63. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV004709971 SCV005250959 benign not provided criteria provided, single submitter not provided

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