ClinVar Miner

Submissions for variant NM_020631.5(PLEKHG5):c.2427C>T (p.Asp809=) (rs369876443)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000307661 SCV000358732 uncertain significance Distal spinal muscular atrophy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000551255 SCV000646029 likely benign Distal spinal muscular atrophy, autosomal recessive 4; Charcot-Marie-Tooth disease, recessive intermediate c 2017-06-03 criteria provided, single submitter clinical testing

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