ClinVar Miner

Submissions for variant NM_006579.3(EBP):c.282A>C (p.Gln94His)

gnomAD frequency: 0.00019  dbSNP: rs182712356
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000942566 SCV001088496 benign not provided 2025-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000942566 SCV001756367 benign not provided 2021-05-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000942566 SCV005894257 likely benign not provided 2025-02-01 criteria provided, single submitter clinical testing EBP: BS2
PreventionGenetics, part of Exact Sciences RCV003933219 SCV004764843 benign EBP-related disorder 2021-11-29 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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