ClinVar Miner

Submissions for variant NM_006415.4(SPTLC1):c.113T>G (p.Leu38Arg)

dbSNP: rs1478177125
Minimum review status: Collection method:
Minimum conflict level:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV003152660 SCV003841243 pathogenic Amyotrophic lateral sclerosis 27, juvenile 2023-04-21 no assertion criteria provided literature only

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