ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.821-46G>T

gnomAD frequency: 0.00006  dbSNP: rs111033776
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
Counsyl RCV000022213 SCV000796738 likely benign Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2017-12-28 criteria provided, single submitter clinical testing
Invitae RCV000022213 SCV001635966 likely benign Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2023-01-08 criteria provided, single submitter clinical testing

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