ClinVar Miner

Submissions for variant NC_000018.10:g.46521135C>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000825775 SCV000967242 likely benign not specified 2018-05-01 criteria provided, single submitter clinical testing The p.Asp634Asn variant in LOXHD1 has not been previously reported in individual s with hearing loss, but has been identified in 20/24794 of Latino chromosomes b y the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbS NP rs1020724757). Computational prediction tools and conservation analysis sugge st that the p.Asp634Asn variant is less likely to impact the protein. In summary , based on an allele frequency of 0.08% and computational predictions, the p.Asp 634Asn variant is classified as likely benign. ACMG/AMP criteria applied: BP4, B S1_Supporting

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