ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.710A>G (p.Asn237Ser) (rs539278802)

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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 RCV000150994 SCV000198682 likely benign not specified 2014-09-04 criteria provided, single submitter clinical testing Asn237Ser in exon 6 of LOXHD1: This variant is not expected to have clinical sig nificance due to a lack of conservation across species, including mammals. Of no te, several species including three mammals have a serine (Ser) at this position despite high nearby amino acid conservation. In addition, computational predict ion tools do not suggest a high likelihood of impact to the protein.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000728055 SCV000855580 uncertain significance not provided 2017-07-25 criteria provided, single submitter clinical testing

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