ClinVar Miner

Submissions for variant NM_000308.3(CTSA):c.-43G>T

gnomAD frequency: 0.01437  dbSNP: rs116893852
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000374904 SCV000434074 likely benign Combined deficiency of sialidase AND beta galactosidase 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000767319 SCV001941435 benign not provided 2019-06-18 criteria provided, single submitter clinical testing
Seelig Lab, University of Washington RCV000767319 SCV000897885 not provided not provided no assertion provided in vitro

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