ClinVar Miner

Submissions for variant NM_007272.3(CTRC):c.356+7G>C

gnomAD frequency: 0.00003  dbSNP: rs773334021
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000438 SCV001157252 likely benign Hereditary pancreatitis 2018-10-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001000438 SCV001724696 benign Hereditary pancreatitis 2023-04-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003943314 SCV004757703 likely benign CTRC-related disorder 2021-10-21 no assertion criteria provided 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).

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