ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.8856C>T (p.Asp2952=)

gnomAD frequency: 0.00001  dbSNP: rs766581620
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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 RCV000371584 SCV000399424 uncertain significance Brittle cornea syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002446579 SCV002682585 likely benign Cardiovascular phenotype 2020-03-17 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 RCV003765863 SCV004665505 likely benign not provided 2023-09-21 criteria provided, single submitter clinical testing

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