ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.328+7T>C

gnomAD frequency: 0.00001  dbSNP: rs774350978
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005407767 SCV000695688 likely benign not specified 2025-04-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001082085 SCV001020338 likely benign Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2024-03-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276328 SCV001462500 uncertain significance Galactosemia 2018-07-21 no assertion criteria provided clinical testing

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