Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004019793 | SCV004909800 | uncertain significance | Inborn genetic diseases | 2023-11-29 | criteria provided, single submitter | clinical testing | The c.95C>T (p.P32L) alteration is located in exon 1 (coding exon 1) of the ASPRV1 gene. This alteration results from a C to T substitution at nucleotide position 95, causing the proline (P) at amino acid position 32 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Science for Life laboratory, |
RCV000149354 | SCV000088996 | unknown | Malignant tumor of prostate | no assertion criteria provided | not provided | Converted during submission to Uncertain significance. |