ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.7116C>G (p.Thr2372=)

gnomAD frequency: 0.00006  dbSNP: rs762487170
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000349899 SCV000399389 uncertain significance Brittle cornea syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001569528 SCV001793629 likely benign not provided 2020-11-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002374545 SCV002667817 likely benign Cardiovascular phenotype 2019-07-02 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 RCV001569528 SCV003795818 likely benign not provided 2024-01-28 criteria provided, single submitter clinical testing

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