ClinVar Miner

Submissions for variant NM_022772.4(EPS8L2):c.1060-6C>T

gnomAD frequency: 0.00065  dbSNP: rs147136470
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002122438 SCV002392990 likely benign not provided 2023-12-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002122438 SCV005220876 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003903358 SCV004722082 benign EPS8L2-related disorder 2024-01-04 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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