ClinVar Miner

Submissions for variant NM_001008216.2(GALE):c.-77+311C>T

gnomAD frequency: 0.03995  dbSNP: rs113324056
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000401588 SCV000356624 likely benign UDPglucose-4-epimerase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000288572 SCV000483026 likely benign Deficiency of hydroxymethylglutaryl-CoA lyase 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004710782 SCV005261342 likely benign not provided criteria provided, single submitter not provided

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