ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup) (rs377139749)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000081821 SCV000202451 benign not specified 2013-12-06 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081821 SCV000247015 likely benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000081821 SCV000258119 benign not specified 2015-07-10 criteria provided, single submitter clinical testing
Invitae RCV000233607 SCV000290338 benign CHARGE association 2020-12-04 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000081821 SCV000312949 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000266990 SCV000474401 likely benign Hypogonadism with anosmia 2016-06-14 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514792 SCV000610071 benign not provided 2017-04-12 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000233607 SCV000781104 likely benign CHARGE association 2016-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717179 SCV000848028 benign History of neurodevelopmental disorder 2016-07-20 criteria provided, single submitter clinical testing Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation;Does not segregate with disease in family study (genes with complete penetrance);General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000081821 SCV000966269 benign not specified 2018-04-10 criteria provided, single submitter clinical testing p.Ala685_Lys686dup (c.2053_2058dupGCAAAA) in exon 3 of CHD7: This variant is cla ssified as benign because it has been identified in 1% of European chromosomes, including 4 homozygotes, by the Genome Aggregation Database (gnomAD; http://gnom ad.broadinstitute.org; dbSNP rs377139749). ACMG/AMP Criteria applied: BA1.
Mendelics RCV000233607 SCV001137628 benign CHARGE association 2019-05-28 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000514792 SCV001143546 benign not provided 2019-01-18 criteria provided, single submitter clinical testing

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