ClinVar Miner

Submissions for variant NM_001083964.1(TDRKH):c.851G>A (p.Arg284His) (rs375454176)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Institute of Bioregulation,Kyushu university RCV000617017 SCV000660436 likely pathogenic Distal spinal muscular atrophy 2017-12-23 no assertion criteria provided clinical testing

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