Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004181089 | SCV003682655 | uncertain significance | not specified | 2022-12-16 | criteria provided, single submitter | clinical testing | The c.4838C>T (p.S1613F) alteration is located in exon 30 (coding exon 30) of the CSMD1 gene. This alteration results from a C to T substitution at nucleotide position 4838, causing the serine (S) at amino acid position 1613 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Prevention |
RCV003963749 | SCV004782976 | likely benign | CSMD1-related disorder | 2022-08-16 | 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). |