ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.2831G>A (p.Arg944His) (rs117506164)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000231264 SCV000290340 benign CHARGE association 2020-09-26 criteria provided, single submitter clinical testing
GeneDx RCV001722263 SCV000329258 benign not provided 2019-07-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22539353)
Illumina Clinical Services Laboratory,Illumina RCV000275169 SCV000474424 likely benign Hypogonadotropic hypogonadism 5 with or without anosmia 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Genetic Services Laboratory, University of Chicago RCV000278975 SCV000594103 benign not specified 2016-10-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718809 SCV000849673 likely benign History of neurodevelopmental disorder 2018-07-19 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000231264 SCV001369672 benign CHARGE association 2018-09-27 criteria provided, single submitter clinical testing This variant was classified as: Benign. The following ACMG criteria were applied in classifying this variant: BS1,BS2.

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