ClinVar Miner

Submissions for variant NM_020631.6(PLEKHG5):c.2274C>G (p.Thr758=)

gnomAD frequency: 0.00002  dbSNP: rs147386989
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812332 SCV001471421 likely benign not provided 2020-05-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001427763 SCV001630448 likely benign Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C 2024-09-17 criteria provided, single submitter clinical testing

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