ClinVar Miner

Submissions for variant NM_014629.4(ARHGEF10):c.38-10T>C

gnomAD frequency: 0.00351  dbSNP: rs138713415
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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 RCV000625164 SCV000602542 benign Autosomal dominant slowed nerve conduction velocity 2020-04-08 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000625164 SCV000743956 likely benign Autosomal dominant slowed nerve conduction velocity 2014-10-09 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625164 SCV000745417 likely benign Autosomal dominant slowed nerve conduction velocity 2016-02-16 criteria provided, single submitter clinical testing
Invitae RCV000959003 SCV001105890 benign not provided 2024-01-21 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001706652 SCV001924968 benign not specified no assertion criteria provided clinical testing

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