ClinVar Miner

Submissions for variant NM_018075.5(ANO10):c.946C>T (p.Leu316=)

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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 RCV002475020 SCV002771154 uncertain significance not provided 2022-09-19 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). Computational tools yielded predictions that this variant is unlikely to have an effect on normal RNA splicing.
Invitae RCV002475020 SCV004491491 likely benign not provided 2023-10-28 criteria provided, single submitter clinical testing

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