ClinVar Miner

Submissions for variant NM_001292063.2(OTOG):c.3682+1G>A

gnomAD frequency: 0.00001  dbSNP: rs554063575
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001782554 SCV002020198 likely pathogenic Autosomal recessive nonsyndromic hearing loss 18B 2020-09-18 criteria provided, single submitter clinical testing
3billion RCV001782554 SCV002058262 likely pathogenic Autosomal recessive nonsyndromic hearing loss 18B 2022-01-03 criteria provided, single submitter clinical testing Canonical splice site: predicted to alter splicing and result in a loss or disruption of normal protein function through protein truncation. Multiple pathogenic variants are reported in the predicted truncated region (PVS1_VS). It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000236, PM2_M). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.

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