Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000218175 | SCV000270971 | benign | not specified | 2017-05-16 | criteria provided, single submitter | clinical testing | p.Ala238Ala in exon 5 of TSPEAR: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 1.1% (113/10126) of Ashkenazi Jewish chromosomes by the Genome Aggregation Database (gnomAD, http:/ /gnomad.broadinstitute.org/; dbSNP rs146025689). |
Gene |
RCV000843460 | SCV000985495 | likely benign | not provided | 2020-10-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000843460 | SCV001045118 | likely benign | not provided | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000843460 | SCV004146675 | likely benign | not provided | 2023-03-01 | criteria provided, single submitter | clinical testing | TSPEAR: BP4, BP7 |