ClinVar Miner

Submissions for variant NM_001008216.2(GALE):c.505C>A (p.Arg169=)

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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 RCV003504439 SCV004354707 likely benign UDPglucose-4-epimerase deficiency 2023-11-06 criteria provided, single submitter clinical testing

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