ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.5439C>T (p.Pro1813=)

gnomAD frequency: 0.00008  dbSNP: rs373869399
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153017 SCV000202462 uncertain significance not provided 2014-01-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001511165 SCV001718363 benign CHARGE syndrome 2021-08-19 criteria provided, single submitter clinical testing
GeneDx RCV000153017 SCV001942654 benign not provided 2020-01-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002345485 SCV002652927 likely benign Inborn genetic diseases 2017-12-19 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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