ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.1883-8A>T

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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 RCV002966210 SCV003276981 likely benign not provided 2023-09-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004536483 SCV004115496 uncertain significance PIEZO2-related disorder 2023-02-20 criteria provided, single submitter clinical testing The PIEZO2 c.1883-8A>T variant is predicted to interfere with splicing. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.068% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/18-10789371-T-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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