ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.4421C>T (p.Ala1474Val)

gnomAD frequency: 0.00605  dbSNP: rs199897247
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175672 SCV000227205 benign not specified 2015-10-08 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000331301 SCV000399343 likely benign Brittle cornea syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001697170 SCV000525861 benign not provided 2018-06-28 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25564447)
Labcorp Genetics (formerly Invitae), Labcorp RCV001697170 SCV002409168 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000331301 SCV002514284 benign Brittle cornea syndrome 1 2021-12-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001697170 SCV002563357 benign not provided 2024-11-01 criteria provided, single submitter clinical testing ZNF469: BP4, BS1, BS2
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277363 SCV002565340 benign Ehlers-Danlos syndrome 2022-01-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002326958 SCV002631215 benign Cardiovascular phenotype 2018-12-17 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 RCV001697170 SCV005217559 likely benign not provided criteria provided, single submitter not provided

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