ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.2080G>T (p.Asp694Tyr) (rs35727744)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041196 SCV000064887 benign not specified 2012-05-07 criteria provided, single submitter clinical testing Asp694Tyr in Exon 16 of LOXHD1: This variant is not expected to have clinical si gnificance because it has been identified in 3.1% (22/702) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs35727744).
Counsyl RCV000666123 SCV000790366 likely benign Deafness, autosomal recessive 77 2017-03-16 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712228 SCV000842672 likely benign not provided 2018-05-25 criteria provided, single submitter clinical testing
Invitae RCV000712228 SCV001036641 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000666123 SCV001283264 uncertain significance Deafness, autosomal recessive 77 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.

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