ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.227-5C>G

gnomAD frequency: 0.00001  dbSNP: rs1303795065
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522416 SCV000618857 uncertain significance not provided 2020-08-28 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Invitae RCV003640907 SCV004540219 likely benign KBG syndrome 2022-11-02 criteria provided, single submitter clinical testing

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