ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.11568C>T (p.Arg3856=)

gnomAD frequency: 0.00208  dbSNP: rs367547260
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001696765 SCV000533453 likely benign not provided 2020-05-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001696765 SCV002490218 benign not provided 2024-12-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002244921 SCV002514352 benign Brittle cornea syndrome 1 2021-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002451040 SCV002613405 likely benign Cardiovascular phenotype 2019-03-12 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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