ClinVar Miner

Submissions for variant NM_020631.6(PLEKHG5):c.2160_2161del (p.Glu721fs)

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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 RCV003736365 SCV004562070 benign not provided 2023-09-22 criteria provided, single submitter clinical testing
Invitae RCV003779374 SCV004586374 benign Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C 2023-10-30 criteria provided, single submitter clinical testing

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