Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Medical Genetics, |
RCV000855749 | SCV000965606 | likely benign | Lethal congenital contracture syndrome 3 | 2019-08-14 | criteria provided, single submitter | clinical testing | The variant was incidentally identified in an individual on clinical exome sequencing for indication of previous baby with ichthyosis. |
Ambry Genetics | RCV002536206 | SCV003587577 | uncertain significance | Inborn genetic diseases | 2021-11-15 | criteria provided, single submitter | clinical testing | The c.1148T>C (p.V383A) alteration is located in exon 9 (coding exon 9) of the PIP5K1C gene. This alteration results from a T to C substitution at nucleotide position 1148, causing the valine (V) at amino acid position 383 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |