ClinVar Miner

Submissions for variant NM_003477.3(PDHX):c.794C>T (p.Thr265Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect, ClinGen RCV002509005 SCV002818353 not provided Pyruvate dehydrogenase E3-binding protein deficiency no assertion provided phenotyping only Variant classified as Uncertain significance and reported on 10-31-2018 by Lab or GTR ID 500068. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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