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Items: 2

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr17:7124874
GRCh38:
Chr17:7221555
ACADVLVery long chain acyl-CoA dehydrogenase deficiencyLikely benign
(Nov 23, 2020)
criteria provided, single submitterVCV000706860
2.
GRCh37:
Chr17:7124874
GRCh38:
Chr17:7221555
ACADVLE165D, E89D, E188D, E143Dnot provided, Very long chain acyl-CoA dehydrogenase deficiency, not specified
Uncertain significance
(Sep 8, 2020)
criteria provided, multiple submitters, no conflictsVCV000092285
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