ClinVar Miner

Submissions for variant NM_007272.3(CTRC):c.180C>A (p.Gly60=)

dbSNP: rs497078
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000227160 SCV000289730 benign Hereditary pancreatitis 2024-02-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000242318 SCV000311779 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000227160 SCV000349080 benign Hereditary pancreatitis 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000227160 SCV000603249 benign Hereditary pancreatitis 2023-11-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000227160 SCV001173750 likely benign Hereditary pancreatitis 2014-10-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
GeneDx RCV001706265 SCV001830130 benign not provided 2018-06-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001706265 SCV005262698 likely benign not provided criteria provided, single submitter not provided
GeneReviews RCV000227160 SCV000153754 association Hereditary pancreatitis 2014-03-13 no assertion criteria provided literature only

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