ClinVar Miner

Submissions for variant NM_014629.4(ARHGEF10):c.1013G>C (p.Arg338Thr) (rs587777712)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dept. of Medical Genetics, Telemark Hospital Trust RCV000144884 SCV000118595 likely pathogenic Charcot-Marie-Tooth disease 2013-11-01 no assertion criteria provided research
OMIM RCV000144070 SCV000189142 uncertain significance not provided 2016-08-12 no assertion criteria provided literature only

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