ClinVar Miner

Submissions for variant NM_020680.4(SCYL1):c.1882C>T (p.Gln628Ter) (rs1554970375)

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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 RCV000627804 SCV000611620 pathogenic CALFAN syndrome 2017-11-09 no assertion criteria provided research
OMIM RCV000853080 SCV000995926 pathogenic Spinocerebellar ataxia, autosomal recessive 21 2019-10-11 no assertion criteria provided literature only

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