ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.2307C>T (p.Ser769=) (rs115658952)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000214744 SCV000269227 benign not specified 2015-05-28 criteria provided, single submitter clinical testing p.Ser769Ser in exon 17 of LOXHD1: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 0.9% (24/2694) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broad institute.org).
Invitae RCV000971076 SCV001118692 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001123223 SCV001282039 uncertain significance Deafness, autosomal recessive 77 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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