ClinVar Miner

Submissions for variant NM_020987.5(ANK3):c.2949G>T (p.Gly983=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003441521 SCV004168050 uncertain significance not provided 2022-10-18 criteria provided, single submitter clinical testing In silico analysis 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.; Has not been previously published as pathogenic or benign to our knowledge; Reported using an alternate transcript of the gene; Variants in candidate genes are classified as variants of uncertain significance in accordance with ACMG guidelines (Richards et al., 2015)

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