ClinVar Miner

Submissions for variant NM_018684.4(ZC4H2):c.432A>G (p.Thr144=)

gnomAD frequency: 0.08938  dbSNP: rs6524946
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002312341 SCV000846439 benign Inborn genetic diseases 2016-04-15 criteria provided, single submitter clinical testing This alteration is classified as 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.
GeneDx RCV001692265 SCV001913735 benign not provided 2018-07-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001692265 SCV002396333 benign not provided 2025-02-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499303 SCV002807474 benign Wieacker-Wolff syndrome; Wieacker-Wolff syndrome, female-restricted 2021-08-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001692265 SCV005279375 benign not provided criteria provided, single submitter not provided

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