Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000346817 | SCV000339373 | uncertain significance | not provided | 2016-02-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002519208 | SCV003543931 | uncertain significance | Inborn genetic diseases | 2022-11-04 | criteria provided, single submitter | clinical testing | The c.9437C>T (p.A3146V) alteration is located in exon 67 (coding exon 66) of the CDH23 gene. This alteration results from a C to T substitution at nucleotide position 9437, causing the alanine (A) at amino acid position 3146 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |