ClinVar Miner

Submissions for variant NM_024915.4(GRHL2):c.1416T>C (p.Pro472=)

gnomAD frequency: 0.00010  dbSNP: rs371708806
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Total submissions: 2
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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 RCV000216820 SCV000270252 likely benign not specified 2015-08-18 criteria provided, single submitter clinical testing p.Pro472Pro in Exon 11 of GRHL2: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 7/66736 European ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs371708806).
GeneDx RCV001547115 SCV001766745 likely benign not provided 2019-12-12 criteria provided, single submitter clinical testing

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