ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.6388C>G (p.Leu2130Val)

gnomAD frequency: 0.00344  dbSNP: rs562559927
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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 RCV000275844 SCV000399376 uncertain significance Brittle cornea syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001718671 SCV000528029 benign not provided 2019-03-08 criteria provided, single submitter clinical testing
Invitae RCV001718671 SCV002346790 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002356440 SCV002655991 likely benign Cardiovascular phenotype 2019-07-05 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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