ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.3282C>T (p.Asp1094=) (rs1431897813)

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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 RCV000599986 SCV000713780 likely benign not specified 2017-11-22 criteria provided, single submitter clinical testing p.Asp1094Asp in exon 21 of LOXHD1: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 3/10246 East A sian chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broad ACMG/AMP Criteria applied: BP4; BP7.

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