ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.10855G>A (p.Val3619Met)

gnomAD frequency: 0.00468  dbSNP: rs111494864
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704550 SCV000535811 benign not provided 2018-10-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001704550 SCV002337947 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002244928 SCV002514344 benign Brittle cornea syndrome 1 2021-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002418336 SCV002726520 benign Cardiovascular phenotype 2019-01-21 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.
Breakthrough Genomics, Breakthrough Genomics RCV001704550 SCV005249650 benign not provided criteria provided, single submitter not provided

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