ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.6800G>A (p.Arg2267Gln)

gnomAD frequency: 0.00232  dbSNP: rs181887079
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001712654 SCV000723493 likely benign not provided 2022-01-21 criteria provided, single submitter clinical testing
Invitae RCV001712654 SCV002401131 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002245045 SCV002514307 benign Brittle cornea syndrome 1 2021-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002377290 SCV002667295 likely benign Cardiovascular phenotype 2024-02-13 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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