ClinVar Miner

Submissions for variant NM_020631.6(PLEKHG5):c.1681-27_1681-3dup

dbSNP: rs748372368
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000645449 SCV000767194 likely benign Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C 2024-10-30 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811416 SCV002049753 likely benign not provided 2021-06-11 criteria provided, single submitter clinical testing

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