ClinVar Miner

Submissions for variant NM_005035.4(POLRMT):c.719C>T (p.Pro240Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003148298 SCV003835016 uncertain significance Autosomal dominant progressive external ophthalmoplegia 2021-12-02 criteria provided, single submitter clinical testing
Baylor Genetics RCV003148297 SCV003835186 uncertain significance Progressive sclerosing poliodystrophy 2021-12-02 criteria provided, single submitter clinical testing

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