ClinVar Miner

Submissions for variant NM_018075.5(ANO10):c.397G>A (p.Glu133Lys)

gnomAD frequency: 0.00008  dbSNP: rs571983239
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001663614 SCV001880576 uncertain significance not provided 2023-04-26 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is higher than would generally be expected for pathogenic variants in this gene (http://gnomad.broadinstitute.org). Computational tools predict that this variant is not damaging.
Invitae RCV001663614 SCV004549711 likely benign not provided 2024-01-17 criteria provided, single submitter clinical testing

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