Table 1.

Clinical relevance of genetic test results.

Confirmed or Likely molecular diagnosis	Carrier status
1 heterozygous P/LP allele in AD gene	1 heterozygous allele in AR gene
1 hemizygous P/LP allele in XL gene in male	1 heterozygous allele in XL gene in female
2 heterozygous or 1 homozygous P/LP alleles in AR genes
1 heterozygous P/LP allele and 1 VUS in AR genes

Each column shows the possible genotypes identified in individuals with either a confirmed or likely molecular diagnosis or carrier result. For patients with heterozygous P/LP variants in genes that are associated with both AD and AR conditions, available information on the variant was used to determine if the P/LP variant was consistent with a molecular diagnosis of the AD condition or carrier status for the AR condition. AD, autosomal dominant inheritance; AR, autosomal recessive inheritance; P/LP, pathogenic or likely pathogenic variant; VUS, variant of uncertain significance; XL, X-linked inheritance.