Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Lupski Lab, |
RCV000416596 | SCV000265638 | likely pathogenic | Congenital anomaly of kidney and urinary tract | criteria provided, single submitter | research | ||
Invitae | RCV000236490 | SCV003522749 | pathogenic | not provided | 2021-12-29 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 219099). This premature translational stop signal has been observed in individual(s) with EMC1-related conditions (PMID: 26942288). This sequence change creates a premature translational stop signal (p.Pro874Argfs*21) in the EMC1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EMC1 are known to be pathogenic (PMID: 26572623, 26942288, 29271071). |
Lupski Lab, |
RCV000236490 | SCV000258465 | likely pathogenic | not provided | flagged submission | research | ||
OMIM | RCV000210401 | SCV000266488 | pathogenic | Cerebellar atrophy, visual impairment, and psychomotor retardation; | 2016-03-29 | no assertion criteria provided | literature only |