ClinVar Miner

Submissions for variant NM_020631.6(PLEKHG5):c.1710G>A (p.Leu570=)

dbSNP: rs1644528365
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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 RCV001812437 SCV001471941 likely benign not provided 2020-04-17 criteria provided, single submitter clinical testing
Invitae RCV002069518 SCV002434267 likely benign Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C 2023-10-28 criteria provided, single submitter clinical testing

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