Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000328923 | SCV000336928 | uncertain significance | not provided | 2015-11-06 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000765511 | SCV000896817 | uncertain significance | Microcephalic osteodysplastic primordial dwarfism type II | 2018-10-31 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000765511 | SCV001474338 | likely benign | Microcephalic osteodysplastic primordial dwarfism type II | 2020-07-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002521920 | SCV003546461 | uncertain significance | Inborn genetic diseases | 2021-09-16 | criteria provided, single submitter | clinical testing | The c.5975C>T (p.P1992L) alteration is located in exon 28 (coding exon 28) of the PCNT gene. This alteration results from a C to T substitution at nucleotide position 5975, causing the proline (P) at amino acid position 1992 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |