ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.8868C>T (p.Pro2956=)

gnomAD frequency: 0.00731  dbSNP: rs137930753
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001712611 SCV000714271 benign not provided 2019-01-15 criteria provided, single submitter clinical testing
Invitae RCV001712611 SCV002402654 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002245041 SCV002514328 benign Brittle cornea syndrome 1 2021-12-05 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279387 SCV002565433 likely benign Ehlers-Danlos syndrome 2021-12-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002448848 SCV002682598 likely benign Cardiovascular phenotype 2020-01-06 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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