ClinVar Miner

Submissions for variant NM_022095.4(ZNF335):c.3800C>A (p.Pro1267Gln)

gnomAD frequency: 0.00829  dbSNP: rs113958814
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000974145 SCV001121959 benign not provided 2025-01-19 criteria provided, single submitter clinical testing
GeneDx RCV000974145 SCV001796244 likely benign not provided 2021-03-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002245795 SCV002514174 benign Microcephalic primordial dwarfism due to ZNF335 deficiency 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000974145 SCV005208778 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003897966 SCV004708802 benign ZNF335-related disorder 2020-01-02 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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