ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.10472C>G (p.Pro3491Arg)

gnomAD frequency: 0.00340  dbSNP: rs183437633
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000436376 SCV000535460 likely benign not provided 2020-09-01 criteria provided, single submitter clinical testing
Invitae RCV000436376 SCV002402487 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002244924 SCV002514338 benign Brittle cornea syndrome 1 2021-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002393055 SCV002698518 benign Cardiovascular phenotype 2020-03-18 criteria provided, single submitter clinical testing This alteration is classified as 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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