Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000174612 | SCV000225934 | benign | not specified | 2015-04-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000889995 | SCV001033716 | likely benign | not provided | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000988312 | SCV001137980 | benign | Autosomal recessive hypophosphatemic bone disease | 2019-05-28 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000988312 | SCV003800481 | likely benign | Autosomal recessive hypophosphatemic bone disease | 2022-03-17 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000889995 | SCV004164027 | likely benign | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | SLC34A3: BS2 |
Prevention |
RCV003955027 | SCV004771998 | likely benign | SLC34A3-related condition | 2020-05-13 | 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). |