ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.6103+8C>T (rs3763592)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081845 SCV000113780 benign not specified 2015-08-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081845 SCV000192784 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000081845 SCV000312985 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000264969 SCV000474464 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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV000324859 SCV000474465 benign CHARGE association 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000081845 SCV000603083 benign not specified 2018-08-24 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000081845 SCV000731620 benign not specified 2017-12-21 criteria provided, single submitter clinical testing c.6103+8C>T in intron 30 of CHD7: This variant is not expected to have clinical significance because it has been identified in 38.25% (9168/23972) of African ch romosomes including 1772 homozygotes by the genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org/; dbSNP rs3763592). ACMG/AMP criteria applied: BA1.
Athena Diagnostics Inc RCV000711194 SCV000841525 benign not provided 2018-07-25 criteria provided, single submitter clinical testing
Invitae RCV000324859 SCV001000581 benign CHARGE association 2019-12-31 criteria provided, single submitter clinical testing

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