ClinVar Miner

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

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000645457 SCV000767202 likely benign Distal spinal muscular atrophy, autosomal recessive 4; Charcot-Marie-Tooth disease, recessive intermediate c 2017-10-06 criteria provided, single submitter clinical testing

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