ClinVar Miner

Submissions for variant NM_020680.4(SCYL1):c.1433A>G (p.Asp478Gly)

dbSNP: rs1554969925
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Working Group: Pediatric metabolic liver diseases, University Hospital Heidelberg RCV000627805 SCV000611621 pathogenic CALFAN syndrome 2017-11-09 no assertion criteria provided research
OMIM RCV000853081 SCV000995927 pathogenic Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome 2019-10-11 no assertion criteria provided literature only

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