ClinVar Miner

Submissions for variant NM_002016.2(FLG):c.9151C>T (p.Arg3051Trp)

gnomAD frequency: 0.00119  dbSNP: rs775324468
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001574438 SCV001801257 likely benign not provided 2020-05-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV003161127 SCV003872005 likely benign Inborn genetic diseases 2023-02-15 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genome-Nilou Lab RCV003339679 SCV004049867 likely benign Ichthyosis vulgaris 2023-04-11 criteria provided, single submitter clinical testing

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