ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.1289-6C>T

gnomAD frequency: 0.00033  dbSNP: rs199967429
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000441732 SCV000514670 benign not specified 2015-10-15 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 RCV000472232 SCV000560119 likely benign Arterial tortuosity syndrome 2025-01-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000441732 SCV000605160 likely benign not specified 2017-01-06 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000441732 SCV002014949 uncertain significance not specified 2021-10-17 criteria provided, single submitter clinical testing

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