ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.630G>A (p.Lys210=)

dbSNP: rs367543260
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV000022169 SCV001786779 uncertain significance Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2021-07-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000022169 SCV003219277 likely benign Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2023-12-14 criteria provided, single submitter clinical testing

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