Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000288021 | SCV000372165 | uncertain significance | Cenani-Lenz syndactyly syndrome | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Invitae | RCV001082274 | SCV000765679 | likely benign | Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000734104 | SCV000862217 | uncertain significance | not provided | 2018-06-27 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001820902 | SCV002065119 | uncertain significance | not specified | 2017-09-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002522198 | SCV003595677 | uncertain significance | Inborn genetic diseases | 2021-08-16 | criteria provided, single submitter | clinical testing | The c.3944C>T (p.S1315L) alteration is located in exon 28 (coding exon 28) of the LRP4 gene. This alteration results from a C to T substitution at nucleotide position 3944, causing the serine (S) at amino acid position 1315 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Gene |
RCV000734104 | SCV003842810 | uncertain significance | not provided | 2022-09-16 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Revvity Omics, |
RCV000734104 | SCV004236270 | uncertain significance | not provided | 2023-06-12 | criteria provided, single submitter | clinical testing |