ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.5913C>T (p.Asn1971=) (rs146200756)

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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 RCV000155140 SCV000204826 benign not specified 2015-06-18 criteria provided, single submitter clinical testing p.Asn1971Asn in exon 38 of LOXHD1: This variant is not expected to have clinical significance because it has been identified in 1.2% (98/7914) of South Asian ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs146200756).
GeneDx RCV000155140 SCV000718106 likely benign not specified 2017-12-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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