ClinVar Miner

Submissions for variant NM_020631.6(PLEKHG5):c.2163delinsTGAGCAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAA (p.Glu720_Glu721insAspGluGlnGluGluGluGluGluGluGluGluGlu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002432628 SCV002731323 likely benign Inborn genetic diseases 2020-11-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV003098679 SCV003248368 likely benign Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C 2020-02-14 criteria provided, single submitter clinical testing

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