ClinVar Miner

Submissions for variant NM_014629.4(ARHGEF10):c.1991T>C (p.Met664Thr)

gnomAD frequency: 0.00800  dbSNP: rs34319003
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000975174 SCV001123053 benign not provided 2023-12-30 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000266 SCV001156872 benign Autosomal dominant slowed nerve conduction velocity 2023-10-16 criteria provided, single submitter clinical testing

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