ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.1116C>T (p.Asp372=)

gnomAD frequency: 0.00002  dbSNP: rs757314660
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000932517 SCV001078200 likely benign Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2024-01-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276336 SCV001462508 uncertain significance Galactosemia 2020-01-24 no assertion criteria provided clinical testing

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