Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV000756569 | SCV000884415 | likely benign | not provided | 2017-05-11 | criteria provided, single submitter | clinical testing | The PRSS1 c.360C>T, p.Asn120Asn variant (rs606231348) has not been reported in the medical literature, but is listed in ClinVar (Variation ID: 161989). It is observed in the Genome Aggregation Database at a frequency of 0.004 percent (11/274710), but is considered a low-confidence variant. The variant is a synonymous substitution, and computational algorithms (GeneSplicer, Human Splicing Finder, MaxEntScan, MutationTaster, NNSplice, SpliceSiteFinder-like) predict no impact on splicing. Based on the above information, the variant is considered likely benign. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001192435 | SCV001360552 | likely benign | not specified | 2019-07-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000149414 | SCV001628183 | likely benign | Hereditary pancreatitis | 2023-09-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000149414 | SCV002616449 | likely benign | Hereditary pancreatitis | 2021-02-12 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Forschungslabor Klinik Innere Medizin A University Medicine Greifswald | RCV000149414 | SCV000196054 | unknown | Hereditary pancreatitis | no assertion criteria provided | not provided | Converted during submission to Uncertain significance. |