ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.6153T>C (p.Asn2051=) (rs181548456)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041222 SCV000064913 likely benign not specified 2012-12-06 criteria provided, single submitter clinical testing Asn2051Asn in exon 39 of LOXHD1: This variant has been identified in 0.04% (1/21 78) of chromosomes a broad population by the 1000 Genomes Project (dbSNP rs18154 8456). It is not expected to have clinical significance because it does not alte r an amino acid residue and is not located within the splice consensus sequence.
Invitae RCV000928900 SCV001074521 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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