ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.6407G>A (p.Arg2136His)

dbSNP: rs121434378
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000002381 SCV000022539 pathogenic Amyotrophic lateral sclerosis type 4 2004-06-01 no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV000789616 SCV000928981 uncertain significance Distal spinal muscular atrophy no assertion criteria provided literature only
Inherited Neuropathy Consortium Ii, University Of Miami RCV000002381 SCV004011925 uncertain significance Amyotrophic lateral sclerosis type 4 2016-01-06 no assertion criteria provided literature only

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