Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000557090 | SCV000654357 | benign | Left ventricular noncompaction 8 | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000614521 | SCV000711466 | likely benign | not specified | 2016-05-06 | criteria provided, single submitter | clinical testing | p.Ala34Ala in exon 2 of PRDM16: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.1% (11/9332) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broad institute.org; dbSNP rs374918897). |
Gene |
RCV001580517 | SCV001817557 | likely benign | not provided | 2020-12-14 | criteria provided, single submitter | clinical testing |