ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.7062G>A (p.Thr2354=)

gnomAD frequency: 0.00006  dbSNP: rs866760637
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000344001 SCV000399386 uncertain significance Brittle cornea syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002056528 SCV002451453 likely benign not provided 2023-06-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV003298379 SCV003997860 likely benign Cardiovascular phenotype 2023-05-30 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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