ClinVar Miner

Submissions for variant NM_130837.3(OPA1):c.3010del (p.Asp1005fs)

dbSNP: rs1721762061
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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 Inc RCV001288318 SCV001475337 likely pathogenic not provided 2020-09-11 criteria provided, single submitter clinical testing This variant is expected to result in the loss of a functional protein. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org).

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