ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.1263+7_1263+10delinsCAGTCGGTGAGGCAGCAGTCG

dbSNP: rs1064794978
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000726923 SCV000570335 likely benign not provided 2021-04-12 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000726923 SCV000704186 uncertain significance not provided 2018-02-09 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000726923 SCV001879976 uncertain significance not provided 2023-03-17 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 uninformative in assessment of its pathogenicity (http://gnomad.broadinstitute.org). Computational tools yielded predictions that this variant may result in the gain of a cryptic splice site without affecting the natural splice sites.

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