ClinVar Miner

Submissions for variant NM_198681.4(PLEKHG5):c.-267G>A

gnomAD frequency: 0.77574  dbSNP: rs1556035
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000433228 SCV000519573 benign not specified 2016-01-06 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.
Genome-Nilou Lab RCV001789344 SCV002031462 benign Charcot-Marie-Tooth disease recessive intermediate C 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789343 SCV002031463 benign Neuronopathy, distal hereditary motor, autosomal recessive 4 2021-10-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004715158 SCV005282973 benign not provided criteria provided, single submitter not provided

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