ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories and "uncertain significance" from ClinGen ACADVL Variant Curation Expert Panel, ClinGen

Minimum review status of the submission from ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories: Collection method of the submission from ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 1
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HGVS dbSNP gnomAD frequency
NM_000018.4(ACADVL):c.1882del (p.Gln628fs) rs1597541142

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