ClinVar Miner

Submissions for variant NM_020631.5(PLEKHG5):c.1681-8G>C (rs139041955)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001085333 SCV000767202 likely benign Distal spinal muscular atrophy, autosomal recessive 4; Charcot-Marie-Tooth disease, recessive intermediate c 2020-10-27 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000645457 SCV001147075 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing

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