Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000251633 | SCV000309408 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000315888 | SCV000349435 | likely benign | Hereditary spherocytosis type 3 | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Laboratory for Molecular Medicine, |
RCV000251633 | SCV000540452 | benign | not specified | 2016-03-28 | criteria provided, single submitter | clinical testing | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: frequency |
ARUP Laboratories, |
RCV001810857 | SCV000605276 | benign | not provided | 2023-11-18 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000986444 | SCV001135450 | benign | Pyropoikilocytosis, hereditary | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001810857 | SCV002449274 | benign | not provided | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002496348 | SCV002800367 | benign | Elliptocytosis 2; Pyropoikilocytosis, hereditary; Hereditary spherocytosis type 3 | 2021-07-29 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000013699 | SCV000033946 | pathogenic | Spherocytosis, type 3, autosomal recessive | 1993-09-01 | no assertion criteria provided | literature only |