ClinVar Miner

Submissions for variant NM_004738.5(VAPB):c.137C>T (p.Thr46Ile)

dbSNP: rs281875284
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000023467 SCV000044758 pathogenic Amyotrophic lateral sclerosis type 8 2010-12-17 no assertion criteria provided literature only
UniProtKB/Swiss-Prot RCV000059634 SCV000091204 not provided not provided no assertion provided not provided

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