ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.914-19C>T

gnomAD frequency: 0.00002  dbSNP: rs758579958
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000584531 SCV000690621 likely benign Hereditary cancer-predisposing syndrome 2016-12-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002065100 SCV002385899 likely benign Familial adenomatous polyposis 2 2025-01-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV000584531 SCV004849141 uncertain significance Hereditary cancer-predisposing syndrome 2015-06-09 criteria provided, single submitter clinical testing The c.998-19C>T intronic alteration consists of a C to T substitution 19 nucleotides before coding exon 12 in the MUTYH gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004543292 SCV004760966 likely benign MUTYH-related disorder 2019-12-19 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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