ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.1059+11A>G

gnomAD frequency: 0.00002  dbSNP: rs886042405
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000390332 SCV000333964 uncertain significance not provided 2015-08-21 criteria provided, single submitter clinical testing
Invitae RCV003765593 SCV004640310 likely benign Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2023-04-13 criteria provided, single submitter clinical testing

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