ClinVar Miner

Submissions for variant NM_001303.4(COX10):c.773T>A (p.Leu258His)

dbSNP: rs587780911
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000202783 SCV000167995 benign not specified 2014-04-25 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.
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000202783 SCV000257889 uncertain significance not specified 2015-02-13 criteria provided, single submitter clinical testing

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