ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.565_578del

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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) RCV000078228 SCV000110066 pathogenic not provided 2013-10-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV003460743 SCV004198541 likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2023-05-30 criteria provided, single submitter clinical testing

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