Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Revvity Omics, |
RCV003493059 | SCV004235960 | uncertain significance | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | 2023-10-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004636750 | SCV005137243 | uncertain significance | Inborn genetic diseases | 2024-05-29 | criteria provided, single submitter | clinical testing | The c.5171C>A (p.A1724D) alteration is located in exon 37 (coding exon 37) of the LAMA1 gene. This alteration results from a C to A substitution at nucleotide position 5171, causing the alanine (A) at amino acid position 1724 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |