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PAH-specific ACMG/AMP criteria applied: BS1: >0.02% as set by the PAH specific specifications; BP7: ; BS3_Supporting: cDNA method demonstrates 98% and intinic system demonstrates 81% residual enzyme activity; BS2: 38 homozygotes in gnomAD. In summary this variant meets criteria to be classified as benign for phenylketonuria in an autosomal recessive manner based on the ACMG/AMP criteria applied as specified by the PAH Expert Panel: (BS1, BP7, BS3_Supporting, BS2).
Met criteria codes
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
38 homozygotes in gnomAD
>0.02% as set by the PAH specific specifications
cDNA method demonstrates 98% and intinic system demonstrates 81% residual enzyme activity
Approved on: 2018-07-29
Published on: 2019-04-06
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