ClinVar Miner

Submissions for variant NM_020680.4(SCYL1):c.2267G>C (p.Gly756Ala)

dbSNP: rs767319743
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001336498 SCV001529900 uncertain significance Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome 2018-08-23 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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