ClinVar Miner

Submissions for variant NM_001378452.1(ITPR1):c.2911G>C (p.Glu971Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV005000958 SCV005621328 uncertain significance not provided 2023-11-21 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 predict that this variant is not damaging.

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