Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000600388 | SCV000711113 | likely benign | not specified | 2016-06-04 | criteria provided, single submitter | clinical testing | c.5960+8C>T in intron 42 of MYH14: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus se quence and has been identified in 7/9792 African chromosomes by the Exome Aggre gation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs373176553). |
Invitae | RCV000982987 | SCV001131006 | benign | not provided | 2023-07-17 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003953006 | SCV004774052 | likely benign | MYH14-related condition | 2019-07-11 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |