ClinVar Miner

Submissions for variant NM_020631.6(PLEKHG5):c.2316C>T (p.Ser772=)

gnomAD frequency: 0.00001  dbSNP: rs1342219532
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002195147 SCV002357578 likely benign Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C 2023-03-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003883755 SCV004699378 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing PLEKHG5: BP4, BP7

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