ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.288C>T (p.Asn96=)

gnomAD frequency: 0.00002  dbSNP: rs754953018
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002318817 SCV000850227 likely benign Inborn genetic diseases 2016-09-22 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000865740 SCV001006754 likely benign CHARGE syndrome 2023-12-27 criteria provided, single submitter clinical testing
GeneDx RCV001559724 SCV001782015 likely benign not provided 2020-11-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493282 SCV002800065 likely benign CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia 2021-11-23 criteria provided, single submitter clinical testing

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