ClinVar Miner

Submissions for variant NM_020631.6(PLEKHG5):c.2505A>T (p.Pro835=)

gnomAD frequency: 0.00002  dbSNP: rs201034547
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001463103 SCV001667036 likely benign Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C 2024-02-14 criteria provided, single submitter clinical testing

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