ClinVar Miner

Submissions for variant NM_001079827.2(CLRN2):c.236G>T (p.Arg79Leu)

dbSNP: rs200144103
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV001808226 SCV002058834 uncertain significance Hearing loss, autosomal recessive 117 2022-01-03 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000076, PM2_M). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.765, PP3_P). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.
Juno Genomics, Hangzhou Juno Genomics, Inc RCV001808226 SCV005416871 uncertain significance Hearing loss, autosomal recessive 117 criteria provided, single submitter clinical testing PP3+PM3_Supporting

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