ClinVar Miner

Submissions for variant NM_001008216.2(GALE):c.879G>C (p.Pro293=)

dbSNP: rs142332521
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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 RCV001460269 SCV001664132 likely benign UDPglucose-4-epimerase deficiency 2022-01-14 criteria provided, single submitter clinical testing

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