ClinVar Miner

Submissions for variant NM_020631.6(PLEKHG5):c.-88+6328C>T

gnomAD frequency: 0.00522  dbSNP: rs147378306
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001565953 SCV001472965 benign not provided 2020-06-19 criteria provided, single submitter clinical testing
GeneDx RCV001565953 SCV001789405 likely benign not provided 2018-08-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499497 SCV002807550 likely benign Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C 2021-09-20 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001565953 SCV005261739 likely benign not provided criteria provided, single submitter not provided

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