Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000884650 | SCV001028044 | benign | not provided | 2023-01-20 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000884650 | SCV004150798 | likely benign | not provided | 2023-04-01 | criteria provided, single submitter | clinical testing | LAMA5: BP4 |
Ambry Genetics | RCV004028341 | SCV004896076 | uncertain significance | Inborn genetic diseases | 2024-02-27 | criteria provided, single submitter | clinical testing | The c.6740C>T (p.A2247V) alteration is located in exon 50 (coding exon 50) of the LAMA5 gene. This alteration results from a C to T substitution at nucleotide position 6740, causing the alanine (A) at amino acid position 2247 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Mayo Clinic Laboratories, |
RCV000884650 | SCV005410106 | uncertain significance | not provided | 2023-07-19 | criteria provided, single submitter | clinical testing | BP4_strong |
Prevention |
RCV003910450 | SCV004724991 | likely benign | LAMA5-related disorder | 2023-07-12 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |