Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000345528 | SCV000341242 | uncertain significance | not provided | 2016-04-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003165753 | SCV003902245 | uncertain significance | Inborn genetic diseases | 2023-02-16 | criteria provided, single submitter | clinical testing | The c.7442A>G (p.D2481G) alteration is located in exon 48 (coding exon 48) of the NBEAL2 gene. This alteration results from a A to G substitution at nucleotide position 7442, causing the aspartic acid (D) at amino acid position 2481 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |