ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine and "uncertain significance" from Natera, Inc.

Minimum review status of the submission from Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine: Collection method of the submission from Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 2
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HGVS dbSNP gnomAD frequency
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp) rs146379816 0.00039
NM_000018.4(ACADVL):c.1220G>C (p.Gly407Ala) rs904631654 0.00011

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