ClinVar Miner

Submissions for variant NM_080424.4(SP110):c.1448G>A (p.Gly483Glu)

gnomAD frequency: 0.00001  dbSNP: rs534248634
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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 RCV001329908 SCV001521467 uncertain significance Hepatic veno-occlusive disease-immunodeficiency syndrome 2019-02-11 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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