ClinVar Miner

Submissions for variant NM_001008216.2(GALE):c.924C>T (p.Tyr308=)

gnomAD frequency: 0.00003  dbSNP: rs377444727
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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 RCV001441271 SCV001644196 likely benign UDPglucose-4-epimerase deficiency 2024-01-02 criteria provided, single submitter clinical testing

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