ClinVar Miner

Submissions for variant NM_020631.6(PLEKHG5):c.87G>A (p.Pro29=)

gnomAD frequency: 0.00107  dbSNP: rs140892576
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000550695 SCV000646069 benign Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001171747 SCV001334586 likely benign not provided 2020-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001171747 SCV001901755 likely benign not provided 2018-08-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002377111 SCV002685179 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.

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