ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.801+14C>T

gnomAD frequency: 0.00001  dbSNP: rs200744672
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000035312 SCV000058960 likely benign not specified 2012-09-21 criteria provided, single submitter clinical testing 801+14C>T in intron 5 of GLA: This variant is not expected to have clinical sign ificance because it is not located within the splice consensus sequence. 801+14 C>T in intron 5 of GLA (allele frequency = n/a)
GeneDx RCV000035312 SCV000535906 likely benign not specified 2017-01-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002054556 SCV002455720 likely benign Fabry disease 2025-01-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000035312 SCV003934333 uncertain significance not specified 2023-05-15 criteria provided, single submitter clinical testing

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