ClinVar Miner

Submissions for variant NM_001008216.2(GALE):c.873+20C>T

gnomAD frequency: 0.00283  dbSNP: rs141022680
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078695 SCV000110555 benign not specified 2017-04-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002055096 SCV002461387 benign UDPglucose-4-epimerase deficiency 2024-01-30 criteria provided, single submitter clinical testing

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