ClinVar Miner

Submissions for variant NM_004839.4(HOMER2):c.1031A>G (p.Ter344Trp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Precision Medicine Center, Zhengzhou University RCV005002070 SCV005619928 likely pathogenic Autosomal dominant nonsyndromic hearing loss 68 criteria provided, single submitter clinical testing PVS1+PM2_supporting+PP1_strong Currently, ClinGen has rated the correlation between the HOMER2 gene and non-syndromic hereditary hearing loss as "Moderate". We have downgraded the rating of this variant to "Likely pathogenic".

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