ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.1536A>G (p.Pro512=)

gnomAD frequency: 0.00218  dbSNP: rs148577619
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175892 SCV000227463 benign not specified 2015-01-06 criteria provided, single submitter clinical testing
GeneDx RCV000175892 SCV000512578 benign not specified 2015-08-24 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000525109 SCV000631240 benign CHARGE syndrome 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002317016 SCV000850449 benign Inborn genetic diseases 2017-01-31 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Athena Diagnostics RCV000175892 SCV001476341 benign not specified 2020-07-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505254 SCV002798885 likely benign CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia 2021-08-02 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000175892 SCV004813147 benign not specified 2024-02-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004712154 SCV005268343 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003917632 SCV004730958 benign CHD7-related disorder 2020-11-16 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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