ClinVar Miner

Submissions for variant NM_000756.4(CRH):c.456G>A (p.Arg152=)

gnomAD frequency: 0.00126  dbSNP: rs144205489
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000711324 SCV000841665 benign not provided 2017-11-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV004026802 SCV000847201 likely benign not specified 2016-07-24 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 RCV000711324 SCV001022902 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000711324 SCV005225813 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003907967 SCV004731859 benign CRH-related disorder 2019-10-14 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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