ClinVar Miner

Submissions for variant NM_007272.3(CTRC):c.180C>A (p.Gly60=) (rs497078)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000227160 SCV000289730 benign Hereditary pancreatitis 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000242318 SCV000311779 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,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 2018-07-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV001013198 SCV001173750 likely benign Inborn genetic diseases 2014-10-20 criteria provided, single submitter clinical testing
GeneReviews RCV000227160 SCV000153754 association Hereditary pancreatitis 2014-03-13 no assertion criteria provided literature only

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