ClinVar Miner

Submissions for variant NM_001008216.2(GALE):c.300G>A (p.Lys100=)

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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 RCV003609444 SCV004381596 likely benign UDPglucose-4-epimerase deficiency 2023-12-30 criteria provided, single submitter clinical testing

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