Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000804376 | SCV000944285 | likely benign | Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000804376 | SCV002789253 | uncertain significance | Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 | 2021-11-17 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV003117594 | SCV003799299 | uncertain significance | not provided | 2022-04-05 | criteria provided, single submitter | clinical testing | The ATP7A c.1558C>T; p.Leu520Phe variant (rs1331470313), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 649439). The variant is reported in the non-Finnish European population with an allele frequency of 0.002% (2/81,900 alleles including 1 hemizygote) in the Genome Aggregation Database. The leucine at codon 520 is moderately conserved and computational analyses predict that this variant is deleterious (REVEL: 0.702). However, given the lack of clinical and functional data, the significance of the p.Leu520Phe variant is uncertain at this time. |
Natera, |
RCV001830742 | SCV002089054 | uncertain significance | Menkes kinky-hair syndrome | 2021-03-23 | no assertion criteria provided | clinical testing |