ClinVar Miner

Submissions for variant NM_020680.4(SCYL1):c.1412C>T (p.Ala471Val)

dbSNP: rs1554969894
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000661920 SCV000784242 likely pathogenic Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome 2018-03-05 criteria provided, single submitter clinical testing

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