ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.5725G>A (p.Asp1909Asn) (rs727504544)

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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 RCV000616964 SCV000731460 likely benign not specified 2017-03-07 criteria provided, single submitter clinical testing p.Asp1909Asn in exon 37 of LOXHD1: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. O f note, 5 mammals (Pacific walrus, weddel seal, David's myotis bat, microbat and platypus) have an Asn at this position. It has been identified in 1/22822 South Asian chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.bro adinstitute.org; dbSNP rs727504544).

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