ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.507+62G>A

gnomAD frequency: 0.04610  dbSNP: rs2277202
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000022128 SCV000603791 benign Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2018-07-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000022128 SCV001748522 benign Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001711134 SCV001945803 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001711134 SCV005272553 benign not provided criteria provided, single submitter not provided
GeneReviews RCV000022128 SCV000257443 not provided Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase no assertion provided literature only
Natera, Inc. RCV001276267 SCV001462316 benign Galactosemia 2020-09-16 no assertion criteria provided clinical testing

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