ClinVar Miner

Submissions for variant NM_001039213.4(CEACAM16):c.1057G>A (p.Gly353Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Prof. Karen Avraham, Tel Aviv University RCV004585133 SCV005073797 likely pathogenic Hearing loss, autosomal recessive 113 2024-05-01 criteria provided, single submitter research Very rare variant, predicted to have a deleterious effect by most prediction programs, in compound heterozygosity with a known mutation

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