Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000398280 | SCV000344412 | benign | not specified | 2016-08-26 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001084810 | SCV000755903 | benign | Niemann-Pick disease, type B; Niemann-Pick disease, type A | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001107856 | SCV001265043 | uncertain significance | Niemann-Pick disease, type A | 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Gene |
RCV000675397 | SCV001815426 | likely benign | not provided | 2021-03-19 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000675397 | SCV004135842 | benign | not provided | 2022-07-01 | criteria provided, single submitter | clinical testing | SMPD1: BP4, BP7, BS1, BS2 |
Mayo Clinic Laboratories, |
RCV000675397 | SCV000801070 | likely benign | not provided | 2017-08-30 | no assertion criteria provided | clinical testing | |
Natera, |
RCV001107856 | SCV002092284 | likely benign | Niemann-Pick disease, type A | 2017-05-05 | no assertion criteria provided | clinical testing | |
Prevention |
RCV003920163 | SCV004746783 | likely benign | SMPD1-related disorder | 2019-02-25 | no assertion criteria provided | 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). |