ClinVar Miner

Submissions for variant NM_002016.2(FLG):c.5828T>A (p.Leu1943His)

dbSNP: rs113544881
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV003339677 SCV004050238 benign Ichthyosis vulgaris 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001572884 SCV005286380 benign not provided criteria provided, single submitter not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001572884 SCV001797943 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001724357 SCV001957775 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001724357 SCV001966067 benign not specified no assertion criteria provided clinical testing

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