ClinVar Miner

Submissions for variant NM_017563.5(IL17RD):c.1972A>G (p.Met658Val)

gnomAD frequency: 0.00029  dbSNP: rs140930246
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000837365 SCV000979218 likely benign not provided 2018-04-24 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 RCV000837365 SCV003271530 benign not provided 2022-05-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003975352 SCV004787849 benign IL17RD-related disorder 2019-09-18 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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