ClinVar Miner

Submissions for variant NM_001008212.2(OPTN):c.1217del (p.Thr406fs)

dbSNP: rs1833451208
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University RCV001095476 SCV001251021 pathogenic Amyotrophic lateral sclerosis type 12 2020-03-31 criteria provided, single submitter research

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