ClinVar Miner

Submissions for variant NM_024915.4(GRHL2):c.1764-12C>G

dbSNP: rs371424751
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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 RCV000214532 SCV000271829 uncertain significance not specified 2016-11-18 criteria provided, single submitter clinical testing The c.1764-12C>G variant in GRHL2 has been reported by our laboratory in one ind ividual with hearing loss. This variant was identified in 5/16156 South Asian ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs371424751); however, its frequency is not high enough to rule out a pathogenic role. This variant is located in the 3' splice region. Computational tools do not suggest an impact to splicing; however, this information is not pr edictive enough to rule out pathogenicity. In summary, the clinical significance of the c.1764-12C>G variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV002057167 SCV002413414 likely benign not provided 2024-04-13 criteria provided, single submitter clinical testing

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