ClinVar Miner

Submissions for variant NM_001048171.1(MUTYH):c.972G>C (p.Gln324His) (rs3219489)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079500 SCV000111382 benign not specified 2014-11-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV000131427 SCV000186408 benign Hereditary cancer-predisposing syndrome 2014-10-28 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000079500 SCV000306733 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000299432 SCV000357896 benign MYH-associated polyposis 2016-06-14 criteria provided, single submitter clinical testing
Color RCV000131427 SCV000537346 benign Hereditary cancer-predisposing syndrome 2015-03-27 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000079500 SCV000592707 benign not specified 2016-07-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000034684 SCV000604305 benign not provided 2017-05-01 criteria provided, single submitter clinical testing
Invitae RCV000034684 SCV000639247 benign not provided 2019-03-06 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000079500 SCV000710869 benign not specified 2017-05-12 criteria provided, single submitter clinical testing p.Ser372Phe in exon 12 of MUTYH: This variant is not expected to have clinical s ignificance because it has been identified in 49% (15851/32596) of Latino chromo somes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.o rg; dbSNP rs3219489).
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034684 SCV000043372 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
ITMI RCV000079500 SCV000085793 not provided not specified 2013-09-19 no assertion provided reference population
Pathway Genomics RCV000144634 SCV000189961 benign Carcinoma of colon 2014-07-24 no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000079500 SCV000691949 benign not specified no assertion criteria provided clinical testing

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