ClinVar Miner

Submissions for variant NM_020631.6(PLEKHG5):c.2361C>T (p.Thr787=)

gnomAD frequency: 0.00005  dbSNP: rs201054338
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000645456 SCV000718417 likely benign not provided 2018-08-15 criteria provided, single submitter clinical testing
Invitae RCV001397052 SCV001598792 likely benign Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C 2022-10-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002448866 SCV002733202 likely benign Inborn genetic diseases 2019-07-11 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.
CeGaT Center for Human Genetics Tuebingen RCV000645456 SCV004128074 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing PLEKHG5: BP4, BP7

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