ClinVar Miner

Submissions for variant NM_032620.4(GTPBP3):c.424G>A (p.Glu142Lys)

dbSNP: rs2074392366
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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 RCV001249431 SCV001423434 not provided Combined oxidative phosphorylation defect type 23 no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 03-02-2019 by Lab or GTR ID 26957. 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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