ClinVar Miner

Submissions for variant NM_002016.2(FLG):c.138+1G>C

gnomAD frequency: 0.00003  dbSNP: rs756254959
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001783297 SCV002023729 pathogenic Ichthyosis vulgaris 2020-03-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002482306 SCV002780542 likely pathogenic Dermatitis, atopic, 2; Ichthyosis vulgaris 2021-10-13 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001783297 SCV004050278 likely pathogenic Ichthyosis vulgaris 2023-04-11 criteria provided, single submitter clinical testing
GeneDx RCV005255687 SCV005908676 likely pathogenic not provided 2024-10-09 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in an in-frame loss of the adjacent exon in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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