ClinVar Miner

Submissions for variant NM_198173.3(GRHL3):c.165C>G (p.Asp55Glu)

gnomAD frequency: 0.17201  dbSNP: rs2486668
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV001449722 SCV001652987 benign not specified 2021-02-08 criteria provided, single submitter clinical testing The p.Asp55Glu variant in GRHL3 is classified as benign because it has been identified in 15.97% (4526/282536) of total chromosomes in gnomAD, including 3777 homozygous individuals (http://gnomad.broadinstitute.org). ACMG/AMP criteria applied: BA1.
Invitae RCV001511084 SCV001718269 benign Van der Woude syndrome 2 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001673063 SCV001890948 benign not provided 2020-02-18 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31332962)

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