ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.23425_23427CAA[1] (p.Gln7810del) (rs1553614214)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672272 SCV000797363 uncertain significance Nemaline myopathy 2 2018-01-24 criteria provided, single submitter clinical testing
Invitae RCV000672272 SCV001418350 uncertain significance Nemaline myopathy 2 2019-11-11 criteria provided, single submitter clinical testing This variant, c.23428_23430del, results in the deletion of 1 amino acid(s) of the NEB protein (p.Gln7810del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NEB-related conditions. ClinVar contains an entry for this variant (Variation ID: 556282). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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