ClinVar Miner

Submissions for variant NM_005228.5(EGFR):c.3271+42T>G

gnomAD frequency: 0.00001  dbSNP: rs587777940
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003415924 SCV004115161 uncertain significance EGFR-related condition 2023-09-21 criteria provided, single submitter clinical testing The EGFR c.3178T>G variant is predicted to result in the amino acid substitution p.Ser1060Ala. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
ITMI RCV000122377 SCV000083928 not provided not specified 2013-09-19 no assertion provided reference population

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