ClinVar Miner

Submissions for variant NM_198173.3(GRHL3):c.507T>C (p.Asp169=)

gnomAD frequency: 0.00307  dbSNP: rs35868286
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000878136 SCV001020992 benign Van der Woude syndrome 2 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003948267 SCV004774324 likely benign GRHL3-related disorder 2019-04-09 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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