ClinVar Miner

Submissions for variant NM_001008216.2(GALE):c.402T>C (p.Thr134=)

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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 RCV003838243 SCV004633960 likely benign UDPglucose-4-epimerase deficiency 2024-01-04 criteria provided, single submitter clinical testing

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