ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.6199C>G (p.Gln2067Glu)

gnomAD frequency: 0.00001  dbSNP: rs766862122
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247111 SCV000312988 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001312260 SCV001502704 benign CHARGE syndrome 2024-09-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV004021013 SCV005027392 likely benign Inborn genetic diseases 2021-11-09 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.
Fulgent Genetics, Fulgent Genetics RCV005044506 SCV005677101 uncertain significance CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia 2024-04-13 criteria provided, single submitter clinical testing

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