ClinVar Miner

Submissions for variant NM_018685.5(ANLN):c.1545G>A (p.Thr515=)

gnomAD frequency: 0.00020  dbSNP: rs139579665
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001483441 SCV001687833 likely benign not provided 2024-11-29 criteria provided, single submitter clinical testing
GeneDx RCV001483441 SCV004025490 uncertain significance not provided 2023-02-14 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

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