Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Pediatrics Genetics, |
RCV001089938 | SCV001244935 | likely pathogenic | Adrenoleukodystrophy | 2020-04-27 | criteria provided, single submitter | clinical testing | A heterozygous delins in exon 1 of the ABCD1 gene (ABCD1; OMIM* 300371) (chrX:152991338 CC>T; Depth: 241x) that resulted in frameshift mutation at codon 206 (A206Vfs*10) was detected. The p.A206Vfs*10 variant has not been reported in the 1000 genomes, ExAC, ClinVar, HGMD and ALD Mutation Database. |