ClinVar Miner

Submissions for variant NM_024915.4(GRHL2):c.816A>G (p.Lys272=)

gnomAD frequency: 0.00007  dbSNP: rs760857170
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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 RCV000222734 SCV000270254 likely benign not specified 2015-08-11 criteria provided, single submitter clinical testing p.Lys272Lys in exon 6 of GRHL2: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 5/11566 Latino chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg).
GeneDx RCV001651078 SCV001871143 likely benign not provided 2021-03-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003917895 SCV004730279 likely benign GRHL2-related disorder 2020-09-16 no assertion criteria provided 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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