ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.1161+38T>C

gnomAD frequency: 0.11416  dbSNP: rs17687109
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000241732 SCV000302705 benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001533498 SCV001750170 benign Galactosylceramide beta-galactosidase deficiency 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001651109 SCV001865049 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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