Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000845090 | SCV003253591 | likely benign | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | 2023-10-11 | criteria provided, single submitter | clinical testing | |
Genome |
RCV000845090 | SCV000986940 | not provided | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | no assertion provided | phenotyping only | Variant interpretted as Uncertain significance and reported on 07/26/2017 by GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. |