ClinVar Miner

Submissions for variant NM_020680.4(SCYL1):c.1386+1G>T

dbSNP: rs201581270
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centogene AG - the Rare Disease Company RCV001251097 SCV001426471 likely pathogenic Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001251097 SCV002020039 pathogenic Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome 2019-11-19 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV001251097 SCV003924325 pathogenic Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome 2023-05-08 criteria provided, single submitter research

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