ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.71_72insA (p.Phe24fs)

dbSNP: rs886042061
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
Eurofins Ntd Llc (ga) RCV000299758 SCV000330953 pathogenic not provided 2015-10-09 criteria provided, single submitter clinical testing
Baylor Genetics RCV004567823 SCV005058861 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2024-03-14 criteria provided, single submitter clinical testing

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