ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.7165-5A>G (rs376076407)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000379770 SCV000339966 likely benign not specified 2016-03-18 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586567 SCV000699439 benign not provided 2017-07-17 criteria provided, single submitter clinical testing Variant summary: The CHD7 c.7165-5A>G variant involves the alteration of a conserved intronic nucleotide. One in silico tool predicts a damaging outcome for this variant. 4/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 26/75142 control chromosomes at a frequency of 0.000346, which is approximately 277 times the estimated maximal expected allele frequency of a pathogenic CHD7 variant (0.0000013), suggesting this variant is likely a benign polymorphism. In addition, one other clinical diagnostic laboratory classified this variant as likely benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications, nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.
Invitae RCV001087063 SCV000755761 benign CHARGE association 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716205 SCV000847042 benign History of neurodevelopmental disorder 2016-07-05 criteria provided, single submitter clinical testing In silico models in agreement (benign)
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000379770 SCV000966272 benign not specified 2019-01-04 criteria provided, single submitter clinical testing The c.7165-5A>G in CHD7 is classified as benign because it has been identified i n 0.26% (60/22870) of African chromosomes by gnomAD (http://gnomad.broadinstitut e.org). ACMG/AMP Criteria applied: BA1.

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