Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001413356 | SCV001615468 | likely benign | Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome | 2023-10-03 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003433144 | SCV004157237 | likely benign | not provided | 2022-05-01 | criteria provided, single submitter | clinical testing | DIAPH1: BP4, BP7 |