ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.295G>C (p.Ala99Pro)

gnomAD frequency: 0.00003  dbSNP: rs779024959
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000258079 SCV000328312 uncertain significance CHARGE syndrome 2016-09-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000258079 SCV001377634 benign CHARGE syndrome 2023-07-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500964 SCV002779649 uncertain significance CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia 2022-05-18 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003144185 SCV003831966 uncertain significance not provided 2019-10-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV004609338 SCV005106931 likely benign Inborn genetic diseases 2024-05-13 criteria provided, single submitter clinical testing This alteration is classified as likely 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.

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