ClinVar Miner

Submissions for variant NM_014629.4(ARHGEF10):c.2197C>T (p.His733Tyr)

gnomAD frequency: 0.00123  dbSNP: rs147531758
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003603043 SCV000883416 uncertain significance Autosomal dominant slowed nerve conduction velocity 2023-10-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000755828 SCV002458970 likely benign not provided 2024-01-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000755828 SCV002545593 benign not provided 2024-11-01 criteria provided, single submitter clinical testing ARHGEF10: BS1, BS2
Mayo Clinic Laboratories, Mayo Clinic RCV000755828 SCV004224129 uncertain significance not provided 2022-06-24 criteria provided, single submitter clinical testing
Dept. of Medical Genetics, Telemark Hospital Trust, Telemark Hospital Trust RCV000144885 SCV000118596 uncertain significance Charcot-Marie-Tooth disease 2013-11-01 no assertion criteria provided research

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