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Filtering steps used to determine pathogenic and likely pathogenic variants using the ACMG/AMP criteria. PVS1 represents very strong evidence of pathogenicity; PM1, PM2, and PM5 represent moderate evidence of pathogenicity; PP2, PP3, and PP5 represent supporting evidence of pathogenicity.24 MAF, minor allele frequency; SIFT, Sorting Tolerant from Intolerant.
