ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.1412-13C>T

gnomAD frequency: 0.00002  dbSNP: rs371888996
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000439543 SCV000522024 likely benign not specified 2016-06-13 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.
Invitae RCV001865340 SCV002224903 likely benign Arterial tortuosity syndrome 2022-11-02 criteria provided, single submitter clinical testing

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