ClinVar Miner

Submissions for variant NM_002769.5(PRSS1):c.360C>T (p.Asn120=) (rs606231348)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000756569 SCV000287689 likely benign not provided 2018-07-17 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, 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.
Integrated Genetics/Laboratory Corporation of America RCV001192435 SCV001360552 likely benign not specified 2019-07-24 criteria provided, single submitter clinical testing
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.

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