ClinVar Miner

Submissions for variant NM_001008216.2(GALE):c.399C>G (p.Ala133=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003610434 SCV004423761 likely benign UDPglucose-4-epimerase deficiency 2023-01-17 criteria provided, single submitter clinical testing

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